J Genet Med.  2012 Jun;9(1):17-21. 10.5734/JGM.2012.9.1.17.

Analysis of Parental Decisions Based on Sex Chromosome Abnormalities Detected Prenatally: A Ten-year update (2001-2010)

• An GH
• Choi KH
• Yang JH
• Kim MY
• Han JY
• Park SY
• Lee BY
• Lee DE
• Ryu HM

• KMID: 2055564
• DOI: http://doi.org/10.5734/JGM.2012.9.1.17

Abstract

PURPOSE
The aim of this study was to analyze parental decisions regarding pregnancies in which the fetus had sex chromosome abnormalities (SCA) over a ten-year period.
MATERIALS AND METHODS
We collected and reviewed records from our hospital for 2001-2010 and a genetic specialist provided-genetic counseling.
RESULTS
We diagnosed 130 cases (0.71%) with SCA out of 18,376 prenatal cases from 2001 to 2010. We reviewed the records and the results of all pregnancies. We also included cases (n=84) of apparently normal anatomic fetuses to analyze the factors influencing parental decisions. We excluded 34 cases with an obvious anomaly or a presumably bad outcome and 12 cases that were not followed up. Forty-three couples (51.2%) continued their pregnancies while forty-one (48.8%) terminated them. Of 38 mosaicism cases, 21 (55.3%) were continued. Among the 20 pregnancies assisted by reproductive techniques, 15 (75%) were continued (P=0.02). More pregnancies were continued when genetic counseling was provided (61.9%) compared to cases in which it was not provided (19%) (P=0.01).
CONCLUSION
Genetic counseling is important in providing appropriate information to parents. Establishing guidelines and protocols will help both obstetricians and parents to make informed decisions.

Keyword

Sex chromosome aberration; Prenatal diagnosis; Genetic counseling

MeSH Terms

Family Characteristics
Fetus
Genetic Counseling
Humans
Mosaicism
Parents
Pregnancy
Prenatal Diagnosis
Reproductive Techniques
Sex Chromosome Aberrations
Sex Chromosomes
Specialization