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Pregnancy and the Turner syndrome
Obstetrics and Gynecology
|November 1, 1978
Summary
A woman with Turner syndrome (45,X) successfully completed a pregnancy. However, pregnancies in women with 45,X karyotypes show higher risks of fetal loss and chromosomal abnormalities in offspring.
Area of Science:
- Genetics
- Reproductive Endocrinology
- Human Karyotyping
Background:
- Turner syndrome (45,X) is typically associated with infertility and pregnancy complications.
- Monosomy X (45,X) karyotype presents with a range of clinical features, varying in severity.
Observation:
- A 21-year-old female with classic features of Turner syndrome, including short stature and cubitus valgus, achieved a normal pregnancy and delivery.
- Karyotype analysis confirmed a 45,X cell line in all tissues, including blood, skin, uterus, and ovaries.
Findings:
- This case represents the sixth reported instance of a patient with monosomy X (45,X) successfully conceiving and carrying a pregnancy to term.
- Literature review reveals a significant rate of fetal wastage (48%) and chromosomal abnormalities (31%) in offspring of mothers with a 45,X karyotype, including trisomy 21.
Implications:
- Women with a 45,X karyotype planning pregnancy should be counseled regarding increased risks.
- Prenatal diagnostic studies, such as amniocentesis, are recommended for pregnant individuals with a 45,X constitution to monitor fetal health and chromosomal status.