Prenatal decision-making in the second and third trimester in trisomy 21-affected pregnancies
-
Alexander Weichert
,
Thorsten Braun
Abstract
Down syndrome (DS) is the most common chromosome abnormality among live-born infants and the most frequent genetic cause of intellectual disability. The majority of pregnancies affected by DS are terminated. The decision concerning whether or not to continue a pregnancy following the prenatal diagnosis of DS is complex and amongst others, motivated by attitudes towards termination, socioeconomic factors, and ultrasound findings. In Germany, termination of pregnancy (TOP) is a legal option, even during the later stages of gestation. The aim of the present study was to evaluate the pregnancy outcomes as well as possible factors that influence the decisions made by women with trisomy 21-affected pregnancies. In our study 112 pregnancies affected by trisomy 21 were included. Our data confirm that most patients are more likely to terminate a trisomy 21-affected pregnancy [76 (67.9%) vs. 36 (32.1%) continued pregnancies]. Beyond that we found that women who continued their pregnancy tended to be at an advanced stage in their pregnancy at the time of karyotyping. With regards to factors from their medical history as well as sonographic findings there was no identifiable single factor that could distinguish between women that opted to continue or terminate their pregnancy.
References
[1] Petersen MB, Mikkelsen M. Nondisjunction in trisomy 21: origin and mechanisms. Cytogenet Cell Genet. 2000;91:199–203.10.1159/000056844Suche in Google Scholar
[2] Gidiri M, McFarlane J, Holding S, Morgan RJ, Lindow SW. Uptake of invasive testing following a positive triple test for Down’s syndrome. Are midwives different counsellors compared with obstetricians? J Obstet Gynaecol. 2007;27:148–9.10.1080/01443610601113946Suche in Google Scholar
[3] Yang Q, Rasmussen SA, Friedman JM. Mortality associated with Down’s syndrome in the USA from 1983 to 1997: a population-based study. Lancet. 2002;359:1019–25.10.1016/S0140-6736(02)08092-3Suche in Google Scholar
[4] Schieve LA, Boulet SL, Boyle C, Rasmussen SA, Schendel D. Health of children 3 to 17 years of age with Down syndrome in the 1997–2005 national health interview survey. Pediatrics. 2009;123:e253–60.10.1542/peds.2008-1440Suche in Google Scholar PubMed
[5] Perry S, Woodall AL, Pressman EK. Association of ultrasound findings with decision to continue Down syndrome pregnancies. Community Genet. 2007;10:227–30.10.1159/000106561Suche in Google Scholar PubMed
[6] German Criminal Code: juris GmbH; 2013 [09.04.2015]. Available at: http://www.gesetze-im-internet.de/englisch_stgb/.Suche in Google Scholar
[7] Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet Gynecol. 2013;41:247–61.10.1002/uog.12364Suche in Google Scholar PubMed
[8] Bromley B, Shipp TD, Lyons J, Groszmann Y, Navathe RS, Benacerraf BR. What is the importance of second-trimester “soft markers” for trisomy 21 after an 11- to 14-week aneuploidy screening scan? J Ultrasound Med. 2014;33:1747–52.10.7863/ultra.33.10.1747Suche in Google Scholar PubMed
[9] Egan JF, Malakh L, Turner GW, Markenson G, Wax JR, Benn PA. Role of ultrasound for Down syndrome screening in advanced maternal age. Am J Obstet Gynecol. 2001;185:1028–31.10.1067/mob.2001.117673Suche in Google Scholar PubMed
[10] Statistisches Bundesamt. Statistik der Geburten, Statistik 12612-0007 [10.03.2016]. Available at: https://www.destatis.de/.Suche in Google Scholar
[11] Abele H, Wagner P, Sonek J, Hoopmann M, Brucker S, Artunc-Ulkumen B, et al. First trimester ultrasound screening for Down syndrome based on maternal age, fetal nuchal translucency and different combinations of the additional markers nasal bone, tricuspid and ductus venosus flow. Prenat Diagn. 2015;35:1182–6.10.1002/pd.4664Suche in Google Scholar PubMed
[12] Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011;13:913–20.10.1097/OGX.0b013e318247c6bfSuche in Google Scholar
[13] Bianchi DW, Wilkins-Haug L. Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road? Clin Chem. 2014;60:78–87.10.1373/clinchem.2013.202663Suche in Google Scholar
[14] Mansfield C, Hopfer S, Marteau TM. Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review. European Concerted Action: DADA (Decision-making After the Diagnosis of a fetal Abnormality). Prenat Diagn. 1999;19:808–12.10.1002/(SICI)1097-0223(199909)19:9<808::AID-PD637>3.0.CO;2-BSuche in Google Scholar
[15] Vincent VA, Edwards JG, Young SR, Nachtigal M. Pregnancy termination because of chromosomal abnormalities: a study of 26,950 amniocenteses in the southeast. South Med J. 1991;84:1210–3.10.1097/00007611-199110000-00012Suche in Google Scholar
[16] Natoli JL, Ackerman DL, McDermott S, Edwards JG. Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995–2011). Prenat Diagn. 2012;32:142–53.10.1002/pd.2910Suche in Google Scholar
[17] Engels MA, Bhola SL, Twisk JW, Blankenstein MA, van Vugt JM. Evaluation of the introduction of the national Down syndrome screening program in the Netherlands: age-related uptake of prenatal screening and invasive diagnostic testing. Eur J Obstet Gynecol Reprod Biol. 2014;174:59–63.10.1016/j.ejogrb.2013.12.009Suche in Google Scholar
[18] Kramer RL, Jarve RK, Yaron Y, Johnson MP, Lampinen J, Kasperski SB, et al. Determinants of parental decisions after the prenatal diagnosis of Down syndrome. Am J Med Genet. 1998;79:172–4.10.1002/(SICI)1096-8628(19980923)79:3<172::AID-AJMG4>3.0.CO;2-PSuche in Google Scholar
[19] Statistisches Bundesamt. Gesundheit - Schwangerschaftsabbrüche: Statistisches Bundesamt; 2014 [10.04.2015]. Available at: https://www.destatis.de/DE/ZahlenFakten/GesellschaftStaat/Gesundheit/Schwangerschaftsabbrueche/Schwangerschaftsabbrueche.html.Suche in Google Scholar
[20] Hume H, Chasen ST. Trends in timing of prenatal diagnosis and abortion for fetal chromosomal abnormalities. Am J Obstet Gynecol. 2015;213:545.e1–4.10.1016/j.ajog.2015.06.008Suche in Google Scholar
The authors stated that there are no conflicts of interest regarding the publication of this article.
©2017 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Editorial
- Fetal diagnosis and therapy: a continously evolving discipline
- Highlight articles
- Prenatally diagnosed fetal tumors of the head and neck: a systematic review with antenatal and postnatal outcomes over the past 20 years
- Prenatal screening for microcephaly: an update after three decades
- Fetal echocardiography: reference values for the Chinese population
- Multi-fetal pregnancy reduction (MFPR) to twins or singleton – medical justification and ethical slippery slope
- Combined screening test for trisomy 21 – is it as efficient as we believe?
- Fetal loss following invasive prenatal testing: a comparison of transabdominal chorionic villus sampling, transcervical chorionic villus sampling and amniocentesis
- Comparison of adverse perinatal outcomes after single-needle and double-needle CVS techniques
- Prenatal decision-making in the second and third trimester in trisomy 21-affected pregnancies
- Role of collagen type IV in the pathogenesis of increased prenasal thickness in Down syndrome fetuses: sonographic and immunohistological findings
- Congenital diaphragmatic hernia: endotracheal fluid phospholipidic profile following tracheal occlusion in an experimental model
- Original articles
- The effect of intraumbilical fetal nutrition via a subcutaneously implanted port system on amino acid concentration by severe IUGR human fetuses
- Anti-inflammatory Elafin in human fetal membranes
- Recombinant vascular endothelial growth factor 121 injection for the prevention of fetal growth restriction in a preeclampsia mouse model
- Estimation of fetal weight by ultrasonography after preterm premature rupture of membranes: comparison of different formulas
- Congress Calendar
- Congress Calendar
Artikel in diesem Heft
- Frontmatter
- Editorial
- Fetal diagnosis and therapy: a continously evolving discipline
- Highlight articles
- Prenatally diagnosed fetal tumors of the head and neck: a systematic review with antenatal and postnatal outcomes over the past 20 years
- Prenatal screening for microcephaly: an update after three decades
- Fetal echocardiography: reference values for the Chinese population
- Multi-fetal pregnancy reduction (MFPR) to twins or singleton – medical justification and ethical slippery slope
- Combined screening test for trisomy 21 – is it as efficient as we believe?
- Fetal loss following invasive prenatal testing: a comparison of transabdominal chorionic villus sampling, transcervical chorionic villus sampling and amniocentesis
- Comparison of adverse perinatal outcomes after single-needle and double-needle CVS techniques
- Prenatal decision-making in the second and third trimester in trisomy 21-affected pregnancies
- Role of collagen type IV in the pathogenesis of increased prenasal thickness in Down syndrome fetuses: sonographic and immunohistological findings
- Congenital diaphragmatic hernia: endotracheal fluid phospholipidic profile following tracheal occlusion in an experimental model
- Original articles
- The effect of intraumbilical fetal nutrition via a subcutaneously implanted port system on amino acid concentration by severe IUGR human fetuses
- Anti-inflammatory Elafin in human fetal membranes
- Recombinant vascular endothelial growth factor 121 injection for the prevention of fetal growth restriction in a preeclampsia mouse model
- Estimation of fetal weight by ultrasonography after preterm premature rupture of membranes: comparison of different formulas
- Congress Calendar
- Congress Calendar
