Analysis of Parental Decisions Based on Sex Chromosome Abnormalities Detected Prenatally

• 발행기관: 대한의학유전학회
• 저자명: Gye-Hyeong An Kyu-Hong Choi Jae-Hyug Yang Moon-Young Kim Jung-Yeol Han So-Yeon Park Bom-Yi Lee Da-Eun Lee and Hyun-Mee Ryu
• 간행물 정보: 『대한의학유전학회지』제9권 제1호, 17~21쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2012.09.01

영문 초록

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 providedgenetic 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.

목차

Introduction

Materials and Methods

Results

Discussion

Acknowledgment

References

키워드

Sex chromosome aberration Prenatal diagnosis Genetic counseling