Parental decisions of prenatally detected sex chromosome abnormality

• Published in: Journal of Korean medical science Vol. 17; no. 1; pp. 53 - 57
• Main Authors: Kim, Yon-Ju, Park, So-Yeon, Han, Jung-Heol, Kim, Moon-Young, Yang, Jae-Hyug, Choi, Kyu-Hong, Kim, Young-Mi, Kim, Jin-Mee, Ryu, Hyun-Mee
• Format: Journal Article
• Language: English
• Published: Korea (South) Korean Academy of Medical Sciences 01.02.2002
• Subjects: Chromosome Aberrations; Decision Making; Female; Genetic Counseling; Humans; Male; Parents; Pregnancy; Prenatal Diagnosis; Sex Chromosomes
• ISSN: 1011-8934; 1598-6357
• DOI: 10.3346/jkms.2002.17.1.53

Because of the widespread use of amniocentesis, the prenatal recognition of sex chromosome abnormality (SCA) has become increasingly common. Recent literature provided an insight into the understanding of the natural history and prognosis for individuals with SCA. Our study was designed to review the parental decision on pregnancy with SCA. Over the last 10 yr, we diagnosed 38 cases (0.50%) with SCA out of 7,498 prenatal cases. We reviewed the records and the results of the pregnancies. We included the cases (n=25) of apparently normal anatomic fetus to analyze the factors influencing parental decision. We excluded 13 cases with obvious anomaly or presumably bad outcome. Fifteen (60%) couples continued their pregnancies and ten (40%) terminated theirs. Nine couples (64%) out of fourteen mosaicism cases continued their pregnancies. All five pregnancies assisted by reproductive technique continued their pregnancies. More pregnancies were continued when counseling was done by an MD geneticist rather than by an obstetrician. A significant trend was observed with a higher rate of pregnancy continuation in recent years. The genetic counseling is important to give appropriate information to the parents. Establishing guidelines and protocols will help both obstetricians and parents to make a decision.