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Section 1 - Basic Sciences in Obstetrics

Published online by Cambridge University Press:  20 November 2021

Edited by
Tahir Mahmood ,
Charles Savona Ventura ,
Ioannis Messinis  and
Sambit Mukhopadhyay
Tahir Mahmood
Affiliation:
Victoria Hospital, Kirkcaldy
Charles Savona Ventura
Affiliation:
University of Malta, Malta
Ioannis Messinis
Affiliation:
University of Thessaly, Greece
Sambit Mukhopadhyay
Affiliation:
Norfolk & Norwich University Hospital, UK
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The EBCOG Postgraduate Textbook of Obstetrics & Gynaecology
Obstetrics & Maternal-Fetal Medicine
 , pp. 1 - 44
Publisher: Cambridge University Press
Print publication year: 2021

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References

References

Vilanova-Sanchez, A, McCracken, K, Halleran, DR, et al. Obstetrical outcomes in adult patients born with complex anorectal malformations and cloacal anomalies: a literature review. J Pediatr Adolesc Gynecol. 2019 Feb;32(1):7–14.CrossRefGoogle ScholarPubMed
Bailey, AP, Jaslow, CR, Kutteh, WH. Minimally invasive surgical options for congenital and acquired uterine factors associated with recurrent pregnancy loss. Womens Health (Lond). 2015 Mar;11(2):161–7.Google ScholarPubMed
Rikken, JFW, Kowalik, CR, Emanuel, MH, et al. The randomised uterine septum transsection trial (TRUST): design and protocol. BMC Womens Health. 2018 Oct 5; 18(1):163.Google Scholar
Ludwin, A, Ludwin, I, Bhagavath, B, Lindheim, SR. Pre-, intra-, and postoperative management of Robert’s uterus. Fertil Steril. 2018 Sep;110(4):778–9.CrossRefGoogle ScholarPubMed
DeSilva, JM, Rosenberg, KR. Anatomy, development, and function of the human pelvis. Anat Rec (Hoboken). 2017 Apr;300(4):628–32.CrossRefGoogle ScholarPubMed
Drake, RL, Vogl, W, Mitchell, AWM. Pelvis and perineum. In Gray’s Anatomy for Students, 3rd ed. London: Churchill Livingstone Elsevier, 2015, pp. 406–504.Google Scholar
Hemmerich, A, Bandrowska, T, Dumas, GA. The effects of squatting while pregnant on pelvic dimensions: a computational simulation to understand childbirth. J Biomech. 2019 Apr 18;87:64-74. pii: S0021-9290(19)30147–2.Google Scholar
NyangohTimoh, K, Moszkowicz, D, Zaitouna, M, et al. Detailed muscular structure and neural control anatomy of the levator ani muscle: a study based on female human fetuses. Am J Obstet. Gynecol. 2018 Jan;218(1):121.e1-121.e12.CrossRefGoogle Scholar
Sinnatamby, CS. Abdomen. In Last’s Anatomy Regional and Applied, 12th ed. London: Churchill Livingstone Elsevier, 2011, pp. 301–16, 322–4.Google Scholar
Jiang, H, Qian, X, Carroli, G, Garner, P. Selective versus routine use of episiotomy for vaginal birth. Cochrane Database Syst Rev. 2017 Feb 8;2:CD000081.Google Scholar
Arbuckle, JL, Parden, AM, Hoover, K, Griffin, RL, Richter, HE. Prevalence and awareness of pelvic floor disorders in adolescent females seeking gynecologic care. J Pediatr Adolesc Gynecol. 2019;32(3):288–92.Google Scholar
Lemos, AQ, Brasil, CA, Alvares, CM, et al. The relation of the pelvis and the perineal function in incontinent women: a neglected subject. Neurourol Urodyn. 2018 Nov;37(8):2799–2809.Google Scholar
Muavha, DA, Ras, L, Jeffery, S. Laparoscopic surgical anatomy for pelvic floor surgery. Best Pract Res Clin Obstet Gynaecol. 2019 Jan;54:89–102.Google Scholar
Snell, RS. The perineum. In Clinical Anatomy by Regions, 9th ed. Philadelphia: Wolters Kluwer Health, Lippincott Williams and Wilkins, 2012, pp. 302–33.Google Scholar
VanBuren, WM, Lightner, AL, Kim, ST, et al. Imaging and surgical management of anorectal vaginal fistulas. Radiographics. 2018 Sep-Oct;38(5):1385–1401.CrossRefGoogle ScholarPubMed
Wu, Y, Dabhoiwala, NF, Hagoort, J, et al. Architecture of structures in the urogenital triangle of young adult males; comparison with females. J Anat. 2018 Oct;233(4):447–459.Google Scholar
Rajaram, S, Maheshwari, A, Srivastava, A. Staging for vaginal cancer. Best Pract Res Clin Obstet Gynaecol. 2015 Aug;29(6):822–32.Google Scholar
Höckel, M, Horn, LC, Einenkel, J. (Laterally) extended endopelvic resection: surgical treatment of locally advanced and recurrent cancer of the uterine cervix and vagina based on ontogenetic anatomy. Gynecol Oncol. 2012 Nov;127(2):297–302.CrossRefGoogle ScholarPubMed
Hinata, N, Hieda, K, Sasaki, H, et al. Nerves and fasciae in and around the paracolpium or paravaginal tissue: an immunohistochemical study using elderly donated cadavers. Anat Cell Biol. 2014 Mar;47(1):44–54.CrossRefGoogle ScholarPubMed
Kaestner, L. Management of urological injury at the time of urogynaecology surgery. Best Pract Res Clin Obstet Gynaecol. 2019 Jan;54:2–11.Google Scholar
Bodurtha Smith, AJ, Fader, AN, Tanner, EJ. Sentinel lymph node assessment in endometrial cancer: a systematic review and meta-analysis. Am J Obstet Gynecol. 2017 May;216(5):459–76.e10.Google Scholar
Anton, K, Rosenblum, NG, Teefey, P, Dayaratna, S, Gonsalves, CF. The enlarged fibroid uterus: aberrant arterial supply via the omental artery. Cardiovasc Intervent Radiol. 2019 Apr;42(4):615–19.CrossRefGoogle ScholarPubMed
Alimi, Y, Iwanaga, J, Loukas, M, Tubbs, RS. The clinical anatomy of endometriosis: a review. Cureus. 2018 Sep 25;10(9):e3361.Google Scholar
Ercoli, A, Delmas, V, Iannone, V, et al. The lymphatic drainage of the uterine cervix in adult fresh cadavers: anatomy and surgical implications. Eur J Surg Oncol. 2010 Mar;36(3):298–303.CrossRefGoogle ScholarPubMed
Narayan, K, Lin, MY. Staging for cervix cancer: role of radiology, surgery and clinical assessment. Best Pract Res Clin Obstet Gynaecol. 2015 Aug;29(6):833–44.Google Scholar
Chen, L, Shen, C, Zhou, Z, et al. Automatic PET cervical tumor segmentation by combining deep learning and anatomic prior. Phys Med Biol. 2019 Feb 12;65(8):085019.CrossRefGoogle Scholar
Kimmig, R, Buderath, P, Mach, P, Rusch, P, Aktas, B. Surgical treatment of early ovarian cancer with compartmental resection of regional lymphatic network and indocyanine-green-guided targeted compartmental lymphadenectomy (TCL, paraaortic part). J Gynecol Oncol. 2017 May;28(3):e41.Google Scholar
Kleppe, M, Kraima, AC, Kruitwagen, RF, et al. Understanding lymphatic drainage pathways of the ovaries to predict sites for sentinel nodes in ovarian cancer.Int J Gynecol Cancer. 2015 Oct;25(8):1405–14.CrossRefGoogle ScholarPubMed
Blackburn, SC, Stanton, MP. Anatomy and physiology of the peritoneum. Semin Pediatr Surg. 2014 Dec;23(6):326–30.Google Scholar
Le, O. Patterns of peritoneal spread of tumor in the abdomen and pelvis. World J Radiol. 2013 Mar 28;5(3):106–12.CrossRefGoogle ScholarPubMed

References

McElroy, A, Townsend, PK. Medical Anthropology in Ecological Perspective, 6th ed. Boulder: Westview Press; 2015.Google Scholar
Fritz, MA, Speroff, L. Clinical Gynecologic Endocrinology and Infertility, 8th ed. Philadelphia: Wolters Kluwer; 2010.Google Scholar
Albrecht, ED, Pepe, GJ. Placental steroid hormone biosynthesis in primate pregnancy. Endocr Rev. 1990;11(1):124–50.Google Scholar
Bhattacharyya, S, Chaudhary, J, Das, C. Antibodies to hCG inhibit progesterone production from human syncytiotrophoblast cells. Placenta. 1992;13:135–9.Google Scholar
Pepe, GJ, Albrecht, ED. Actions of placental and fetal adrenal steroid hormones in primate pregnancy. Endocr Rev. 1995;16(5):608–48.Google Scholar
Berkane, N, Liere, P, Oudinet, JP, et al. from pregnancy to preeclampsia: a key role for estrogens. Endocr Rev. 2017;38(2):123–44.Google Scholar
Spellacy, WN, Buhi, WC, Schram, JD, Birk, SA, McCreary, SA. Control of human chorionic somatomammotropin levels during pregnancy. Obstet Gynecol. 1971;37:567–73.Google Scholar
Handwerger, S. Clinical counterpoint: the physiology of placental lactogen in human pregnancy. Endocr Rev. 1991;12(4):329–36.CrossRefGoogle ScholarPubMed
Glinoer, D. The regulation of thyroid function in pregnancy: pathways of endocrine adaptation from physiology to pathology. Endocr Rev. 1997;8:404–33.Google Scholar
Fister, P, Gaberscek, S, Zaletel, K, et al. Thyroid volume changes during pregnancy and after delivery in an iodine-sufficient Republic of Slovenia. Eur J Obstet Gynecol Reprod Biol. 2009;145(1):45–8.Google Scholar
Rigg, LA, Lein, A, Yen, SS. Pattern of increase in circulating prolactin levels during human gestation. Am J Obstet Gynecol. 1977;129(4):454–6.CrossRefGoogle ScholarPubMed
Cunningham, FG, Leveno, KJ, Bloom, SL, et al. Williams Obstetrics, 25th ed. New York: McGraw-Hill Education; 2018.Google Scholar
Hicks, JB. On the contractions of the uterus throughout pregnancy: their physiological effects and their value in the diagnosis of pregnancy. Transactions of the Obstetrical Society of London 1871;13:216–31.Google Scholar
Garfield, RE, Maner, WL, Maul, H, Saade, GR. Use of uterine EMG and cervical LIF in monitoring pregnant patients. BJOG. 2005;112 Suppl 1:103–8.CrossRefGoogle ScholarPubMed
Trojner Bregar, A, Lucovnik, M, Verdenik, I, et al. Uterine electromyography during active phase compared with latent phase of labor at term. Acta Obstet Gynecol Scand. 2016;95:197–202.Google Scholar
Pauerstein, CJ, ed. Clinical Obstetrics. New York: Churchill Livingstone; 1987.Google Scholar
Osol, G, Mandala, M. Maternal uterine vascular remodeling during pregnancy. Physiology (Bethesda). 2009;24:58–71.Google Scholar
Riordan, J, Wmbach, K, eds. Breastfeeding and Human Lactation. Burlington: Jones & Bartlett Learning; 2010.Google Scholar
Lindheimer, MD, Davison, JM. Osmoregulation, the secretion of arginine vasopressin and its metabolism during pregnancy. Eur J Endocrinol. 1995;132:133–43.Google Scholar
Institute of Medicine, Committee on Nutritional Status During Pregnancy and Lactation. Nutrition During Pregnancy: Part I: Weight Gain, Part II: Nutrient Supplements. Washington, DC: The National Academies Press; 1990.Google Scholar
Hytten, F, Chamberlain, G, eds. Clinical Physiology in Obstetrics. Oxford: Blackwell Scientific Publications; 1980.Google Scholar
Creasy, RK, Resnik, R, Iams, JD, et al. Creasy and Resnik’s Maternal-Fetal Medicine: Principles and Practice. Philadelphia; Elsevier Saunders: 2014.Google Scholar
Fisher, AL, Nemeth, E. Iron homeostasis during pregnancy. Am J Clin Nutr. 2017;106(Suppl 6):1567S-74S.CrossRefGoogle ScholarPubMed
Heidemann, BH, McClure, JH. Changes in maternal physiology during pregnancy. BJA CEPD Rev. 2003;3:65–8.Google Scholar
Hellgren, M. Hemostasis during normal pregnancy and puerperium. Semin Thromb Hemost. 2003;29:125–30.Google Scholar
Karlsson, O, Jeppsson, A, Hellgren, M. A longitudinal study of factor XIII activity, fibrinogen concentration, platelet count and clot strength during normal pregnancy. Thromb Res. 2014;134:750–2.Google Scholar
Sanghavi, M, Rutherford, JD. Cardiovascular physiology of pregnancy. Circulation. 2014;130:1003–8.CrossRefGoogle ScholarPubMed
Bobrowski, RA. Pulmonary physiology in pregnancy. Clin Obstet Gynecol. 2010;53:285–300.Google Scholar
Hussein, W, Lafayette, RA. Renal function in normal and disordered pregnancy. Curr Opin Nephrol Hypertens. 2014;23(1):46–53.CrossRefGoogle ScholarPubMed
Odutayo, A, Hladunewich, M. Obstetric nephrology: renal hemodynamic and metabolic physiology in normal pregnancy. Clin J Am Soc Nephrol. 2012;7(12):2073–80.Google Scholar
Cheung, KL, Lafayette, RA. Renal physiology of pregnancy. Adv Chronic Kidney Dis. 2013;20(3):209–14.Google Scholar
Roberts, M, Lindheimer, MD, Davison, JM. Altered glomerular permselectivity to neutral dextrans and heteroporous membrane modeling in human pregnancy. Am J Physiol. 1996;270:F338–43.Google Scholar
Vanagunas, A, Pandolfino, J. Gastrointestinal complications in pregnancy. In Sciarra, JJ, ed. Gynecology and Obstetrics, CD-ROM ed. Hagerstown: Lippincott Williams & Wilkins; 2004.Google Scholar
Tyler, KH. Physiological skin changes during pregnancy. Clin Obstet Gynecol. 2015;58:119–24.Google Scholar
Medawar, PB. Immunity to homologous grafted skin. iii. the fate of skin homographs transplanted to the brain, to subcutaneous tissue, and to the anterior chamber of the eye. Br J Exp Pathol. 1948;29(1):58–69.Google Scholar
Colbern, GT, Main, EK. Immunology of the maternal-placental interface in normal pregnancy. Semin Perinatol. 1991;15(3):196–205.Google Scholar
Mor, G, Cardenas, I. The immune system in pregnancy: a unique complexity. Am J Reprod Immunol. 2010;63(6):425–33.CrossRefGoogle ScholarPubMed
Racicot, K, Kwon, JY, Aldo, P, Silasi, M, Mor, G. Understanding the complexity of the immune system during pregnancy. Am J Reprod Immunol. 2014;72(2):107–16.Google Scholar

References

Grimbizis, GF, Gordts, S, Di Spiezio Sardo, A, et al. The ESHRE/ESGE consensus on the classification of female genital tract congenital anomalies. Hum Reprod. 2013;28(8):2032–44.CrossRefGoogle ScholarPubMed
Grimbizis, GF, Di Spiezio Sardo, A, Saravelos, SH, et al. The Thessaloniki ESHRE/ESGE consensus on diagnosis of female genital anomalies. Hum Reprod. 2016;31(1):2–7.Google Scholar
Chan, YY, Jayaprakasan, K, Zamora, J, et al. The prevalence of congenital uterine anomalies in unselected and high-risk populations: a systematic review. Hum Reprod Update. 2011;17(6):761–71.Google Scholar
Kliegman, R, Stanton, B, St. Geme, J, Schor, NF, Nelson, WE. Nelson Textbook of Pediatrics, 20th ed. Philadelphia: Elsevier Health Sciences; 2015.Google Scholar
Creighton, S, Balen, A, Breech, L. Pediatric and Adolescent Gynecology: A Problem-Based Approach. Cambridge: Cambridge University Press; 2018.CrossRefGoogle Scholar
Buttram, VC Jr., Gibbons, WE. Mullerian anomalies: a proposed classification. (An analysis of 144 cases). Fertil Steril. 1979;32(1):40–6.CrossRefGoogle ScholarPubMed
The American Fertility Society classifications of adnexal adhesions, distal tubal occlusion, tubal occlusion secondary to tubal ligation, tubal pregnancies, Mullerian anomalies and intrauterine adhesions. Fertil Steril. 1988;49(6):944–55.Google Scholar
Oppelt, P, Renner, SP, Brucker, S, et al. The VCUAM (Vagina Cervix Uterus Adnex-associated Malformation) classification: a new classification for genital malformations. Fertil Steril. 2005;84(5):1493–7.Google Scholar
Benacerraf, BR, Goldstein, SR, Groszmann, YS. T-shaped uterus. In Gynecologic Ultrasound: A Problem-Based Approach. Philadelphia: Elsevier Saunders; 2014. pp. 189–91.Google Scholar
Di Spiezio Sardo, A, Florio, P, Nazzaro, G, et al. Hysteroscopic outpatient metroplasty to expand dysmorphic uteri (HOME-DU technique): a pilot study. Reprod Biomed Online. 2015;30(2):166–74.CrossRefGoogle ScholarPubMed
Pfeifer, S, Butts, S, Dumesic, D, et al. Uterine septum: a guideline. Fertil Steril. 2016;106(3):530–40.Google Scholar
Surrey, ES, Katz-Jaffe, M, Surrey, RL, et al. Arcuate uterus: is there an impact on in vitro fertilization outcomes after euploid embryo transfer? Fertil Steril. 2018;109(4):638–43.Google Scholar
Donnez, J. Arcuate uterus: a legitimate pathological entity? Fertil Steril. 2018;109(4):610.Google Scholar
Tomaževič, T, Ban-Frangež, H, Virant-Klun, I, et al. Septate, subseptate and arcuate uterus decrease pregnancy and live birth rates in IVF/ICSI. Reprod Biomed Online. 2010;21(5):700–5.Google Scholar
Chan, YY, Jayaprakasan, K, Tan, A, et al. Reproductive outcomes in women with congenital uterine anomalies: a systematic review. Ultrasound Obstet Gynecol. 2011;38(4):371–82.Google Scholar
Tomaževič, T, Ban-Frangež, H, Ribič-Pucelj, M, Premru-Sršen, T, Verdenik, I. Small uterine septum is an important risk variable for preterm birth. Eur J Obstet Gynecol Reprod Biol. 2007;135(2):154–7.CrossRefGoogle ScholarPubMed
Khalifa, E, Toner, JP, Jones, HW Jr. The role of abdominal metroplasty in the era of operative hysteroscopy. Surg Gynecol Obstet. 1993;176(3):208–12.Google Scholar
Pabuçcu, R, Gomel, V. Reproductive outcome after hysteroscopic metroplasty in women with septate uterus and otherwise unexplained infertility. Fertil Steril. 2004;81(6):1675–8.CrossRefGoogle ScholarPubMed
Homer, HA, Li, TC, Cooke, ID, Bontis, JN, Devroey, P. The septate uterus: a review of management and reproductive outcome. Fertil Steril. 2000; 73:1–14.Google Scholar
Grimbizis, GF, Camus, M, Tarlatzis, BC, Bontis, JN, Devroey, P. Clinical implications of uterine malformations and hysteroscopic treatment results. Hum Reprod Update. 2001;7(2):161–74.Google Scholar
Deutch, TD, Bocca, S, Oehninger, S, Stadtmauer, L, Abuhamad, AZ. P-465: Magnetic Resonance Imaging versus three dimensional transvaginal ultrasound for the diagnosis of Mullerian anomalies. Fertil Steril. 2006;86(3):S308.CrossRefGoogle Scholar
Venetis, CA, Papadopoulos, SP, Campo, R, et al. Clinical implications of congenital uterine anomalies: a meta-analysis of comparative studies. Reprod Biomed Online. 2014;29(6):665–83.Google Scholar
Schorge, JO, Williams, JW. Williams Gynecology. New York; London: McGraw-Hill Medical; McGraw-Hill [distributor]; 2008.Google Scholar
Rock, JA, Thompson, JD, Linde, RWt. Te Linde’s Operative Gynecology. Philadelphia: Lippincott Williams & Wilkins; 1997.Google Scholar
American College of Obstetricians and Gynecologists. ACOG committee opinion. Nonsurgical diagnosis and management of vaginal agenesis. Number 274, July 2002. Committee on Adolescent Health Care. American College of Obstetrics and Gynecology. Int J Gynaecol Obstet. 2002;79(2):167–70.Google Scholar
Brannstrom, M. Uterus transplantation. Curr Opin Organ Transplant. 2015;20(6):621–8.Google Scholar
Emans, SJH, Laufer, MR. Emans, Laufer, Goldstein’s Pediatric & Adolescent Gynecology. Philadelphia: Lippincott Williams & Wilkins; 2012.Google Scholar

References

Curtin, F, Schulz, P. Assessing the benefit: risk ratio of a drug – randomized and naturalistic evidence. Dialogues Clin Neurosci. 2011;13(2):183–90.Google Scholar
Vargesson, N. Thalidomide-induced teratogenesis: History and mechanisms. Birth Defects Res C Embryo Today. 2015;105(2):140–56.Google Scholar
Götz, F, Thieme, S, Dörner, G. Female infertility–effect of perinatal xenoestrogen exposure on reproductive functions in animals and humans. Folia Histochem Cytobiol. 2001;39(Suppl 2):40–3.Google Scholar
Wilson, RD, Davies, G, Désilets, V, et al. The use of folic acid for the prevention of neural tube defects and other congenital anomalies. J Obstet Gynaecol Can. 2003;25(11):959–73.Google Scholar
Ornoy, A. Embryonic oxidative stress as a mechanism of teratogenesis with special emphasis on diabetic embryopathy. Reprod Toxicol. 2007;24(1):31–41.Google Scholar
El Hachem, H, Crepaux, V, May-Panloup, P, et al. Recurrent pregnancy loss: current perspectives. Int J Womens Health. 2017;9:331–45.Google Scholar
Sugiura-Ogasawara, M, Ozaki, Y, Suzumori, N. Management of recurrent miscarriage. J Obstet Gynaecol Res. 2014;40(5):1174–9.Google Scholar
Martin, KL. Nutritional and metabolic requirements of early cleavage stage embryos and blastocysts. Hum Fertil. 2000;3(4):247–54.Google Scholar
Eckert, JJ, Fleming, TP. The effect of nutrition and environment on the preimplantation embryo. Obstet Gynaecol. 2011;13:43–8.Google Scholar
Chen, CH, Xirasagar, S, Lin, CC, et al. Risk of adverse perinatal outcomes with antithyroid treatment during pregnancy: a nationwide population-based study. BJOG. 2011;118(11):1365–73.Google Scholar
Polańska, K, Jurewicz, J, Hanke, W. Smoking and alcohol drinking during pregnancy as the risk factors for poor child neurodevelopment – A review of epidemiological studies. Int J Occup Med Environ Health. 2015;28(3):419–43.Google Scholar
Savona-Ventura, C, Sammut, M, Sammut, C. Pethidine blood concentrations at time of birth. Int J Gynecol Obstet. 1991;36:103–7.Google Scholar
Iqbal, MM, Sobhan, T, Ryals, T. Effects of commonly used benzodiazepines on the fetus, the neonate, and the nursing infant. Psychiatric Services. 2002;53(1):39–49.CrossRefGoogle ScholarPubMed
Chinedu, E, Arome, D, Ameh, FS. A new method for determining acute toxicity in animal models. Toxicol Int. 2013;20(3):224–6.Google Scholar
McColl, JD. Drug toxicity in the animal fetus. Appl Ther. 1967;9(11):915–17.Google Scholar
Rengasamy, P. Congenital malformations attributed to prenatal exposure to cyclophosphamide. Anticancer Agents Med Chem. 2017;17(9):1211–27.Google Scholar
Murphy, ML. Teratogenic effects in rats of growth inhibiting chemicals, including studies on thalidomide. Clin Proc Child Hosp Dist Columbia. 1962;18:307–22.Google Scholar
Ma, A, Xu, H, Du, W, Liu, Y. Effect of folic acid and supplemented with vitamin A and vitamin E on depressing teratogenesis induced by cyclophosphamide. Wei Sheng Yan Jiu. 2001;30(6):343–6.Google Scholar
Adjei, AA, Gaedigk, A, Simon, SD, Weinshilboum, RM, Leeder, JS. Interindividual variability in acetaminophen sulfation by human fetal liver: implications for pharmacogenetic investigations of drug-induced birth defects. Birth Defects Res A Clin Mol Teratol. 2008;2(3):155–665.CrossRefGoogle Scholar
Cassina, M, Cagnoli, GA, Zuccarello, D, Di Gianantonio, E, Clementi, M. Human teratogens and genetic phenocopies. Understanding pathogenesis through human genes mutation. Eur J Med Genet. 2017;60(1):22–31.Google Scholar
Needleman, S, Powell, M. Radiation hazards in pregnancy and methods of prevention. Best Pract Res Clin Obstet Gynaecol. 2016;33:108–16.Google Scholar
UNSCEAR. Sources and Effects of Ionizing Radiation. Vol. 1 of UNSCEAR 2008 Report to the General Assembly. New York: United Nations; 2011.Google Scholar
Wu, D, Qiang, R, Chen, J, et al. Possible overexposure of pregnant women to emissions from a walk-through metal detector. Phys Med Biol. 2007;52(19):5735–48.Google Scholar
Shaw, P, Duncan, A, Vouyouka, A, Ozsvath, K. Radiation exposure and pregnancy. J Vascular Surgery. 2011;53(Suppl 15):28S–34S.Google Scholar
Safety Group of the BMUS. Guidelines for the safe use of diagnostic ultrasound equipment. Ultrasound. 2010;18:52–9.Google Scholar
Cockroft, DL, Trevor New, DA. Effects of hyperthermia on rat embryos in culture. Nature. 1975;258:604–6.Google Scholar
Sudan, M, Birks, LE, Aurrekoetxea, JJ, et al. Maternal cell phone use during pregnancy and child cognition at age 5 years in 3 birth cohorts. Environ Int. 2018;120:155–62.Google Scholar
Bulas, D, Egloff, A. Benefits and risks of MRI in pregnancy. Semin Perinatol. 2013;37(5):301–4.Google Scholar
Ray, JG, Vermeulen, MJ, Bharatha, A, Montanera, WJ, Park, AL. Association between MRI exposure during pregnancy and fetal and childhood outcomes. JAMA. 2016;316(9):952–61.Google Scholar
FDA. Content and format of labeling for human prescription drug and biological products; Requirements for pregnancy and lactation labeling. Federal Register. 2014;79(233):72064–103.Google Scholar

References

Miko, I. Gregor Mendel and the principles of inheritance. Nature Education. 2008;1(1):134.Google Scholar
Watson, JD, Crick, FH. Molecular structure of nucleic acids: a structure for deoxyribose nucleic acid. Nature. 1953;171(4356):737–8.Google Scholar
Sanger, F, Coulson, AR. A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. J Mol Biol. 1975;94(3):441–8.Google Scholar
Mullis, K, Faloona, F, Scharf, S, et al. Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction. Cold Spring Harb Symp Quant Biol. 1986;51:263–73.Google Scholar
International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature. 2004;431(7011):931–45.Google Scholar
Kumar, B, Alfirevic, Z. Fetal Medicine. Cambridge: Cambridge University Press; 2016.CrossRefGoogle Scholar
Resnik, R, Lockwood, CJ, Moore, TR, et al. Creasy & Resnik’s Maternal-Fetal Medicine. Principles and Practice, 8th ed. Philadelphia: Elsevier; 2019.Google Scholar
Cerruti Mainardi, P. Cri du chat syndrome. Orphanet J Rare Dis. 2006;1(1):33.Google Scholar
Wick, JB, Johnson, KJ, O’Brien, J, et al. Second-trimester diagnosis of triploidy: a series of four cases. AJP Rep. 2013;3(1):37–40.Google Scholar
Simmons, D, Sunstad, P, Michael, J. Principles of Genetics, 4th ed. New York: Wiley;2016.Google Scholar
NIH Genetics Home Reference. Trisomy 18. https://ghr.nml.nih.gov/condition/trisomy-18.Google Scholar
Bronsteen, R, Lee, W, Vettraino, IM, Huang, R, Comstock, CH. Second-trimester sonography and trisomy 18. J Ultrasound Med. 2004;23(2):233–40.Google Scholar
Boghosian-Sell, L, Mewar, R, Harrison, W, et al. Molecular mapping of the Edwards syndrome phenotype to two non contiguous regions on chromosome 18. Am J Hum Genet. 1994;55(3):476–83.Google Scholar
Hall, HE, Chan, ER, Collins, A, et al. The origin of trisomy 13. Am J Med Genet A. 2007;143A(19):2242–8.Google Scholar
NIH Genetics Home Reference. Trisomy 13. https://ghr.nml.nih.gov/condition/trisomy-13.Google Scholar
Parker, MJ, Budd, JL, Draper, ES, Young, ID. Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations. Prenat Diagn. 2003;23(10):856–60.Google Scholar
Kumar, B, Alfirevic, Z. Fetal Medicine. Cambridge: Cambridge University Press; 2016.Google Scholar
Cystic Fibrosis Trust. What is cystic fibrosis. Family Genetic Testing: the family cascade screening programme for cystic fibrosis. Cystic Fibrosis factsheet – August 2015. www.cysticfibrosis.org.uk.Google Scholar
American College of Obstetricians and Gynecologists. Practice bulletin no.162: prenatal diagnostic testing for genetic disorders. Obstet Gynecol. 2016;127:e108.CrossRefGoogle Scholar
Wilson, JMG, Junger, G. Principles and practice of screening for disease. Public Health Papers No. 34. Geneva: World Health Organization; 1968. http://whqlibdoc.who.int/php/WHO_PHP_34.pdf.Google Scholar
Ghi, T, Sotiriadis, A, Calda, P, et al. ISUOG practice guidelines: invasive procedures for prenatal diagnosis. Ultrasound Obstet Gynecol. 2016;48:256–68.Google Scholar
Salomon, LJ, Sotiriadis, A, Wulff, CB, Odibo, A, Akolekar, R. Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of the literature and updated meta-analysis. Ultrasound Obstet Gynecol. 2019;54(4). DOI: 10.1002/uog.20353.Google Scholar
Lo, YM, Corbetta, N, Chamberlain, PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350:485–7.Google Scholar
Evans, MI, Goldberg, JD, Horenstein, J, et al. Selective termination for structural, chromosomal, and Mendelian anomalies: international experience. Am J Obstet Gynecol. 1999;181:893–7.Google Scholar
Dugoff, L, Norton, ME, Kuller, JA. The use of chromosomal microarray for prenatal diagnosis. Am J Obstet Gynecol. 2016;215:B2–9.Google Scholar
Snijders, AM, Nowak, N, Segraves, R, et al. Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet. 2001;29(3):263–4.Google Scholar
Beaudet, AL, Belmont, JW. Array-based DNA diagnostics: let the revolution begin. Annu Rev Med. 2008;59: 113–29.CrossRefGoogle ScholarPubMed
Yatsenko, SA, Davis, S, Hendrix, NW, et al. Application of chromosomal microarray in the evaluation of abnormal prenatal findings. Clin Genet. 2013;84(1):47–54.Google Scholar
Fan, HC, Blumenfeld, YJ, Chitkara, U, Hudgins, L, Quake, SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA. 2008;105:16266–71.Google Scholar
Chiu, RW, Chan, KC, Gao, Y, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA. 2008;105:20458–63.Google Scholar
Zhang, H, Gao, Y, Jiang, F, et al. Non-invasive prenatal testing for trisomies 21, 18, 13: clinical experience from 146 958 pregnancies. Ultrasound Obstet Gynecol. 2015;45(5):530–8.Google Scholar
Taylor-Phillips, S, Freeman, K, Geppert, J, et al. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open. 2016;6(1):e010002. DOI: 10.1136/bmjopen-2015-010002.Google Scholar

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