Pregnant woman TTH received the good news of twins after IVF in August last year. At week 21, ultrasound of the fetus' morphology showed that one fetus had growth restriction in the uterus. The slow-growing fetus had two club feet, two hands that showed no signs of opening, two wrists that were always in a drooping position, and a single umbilical artery (normally there are two umbilical arteries).

Specialist I Le Quang Hung, Center for Fetal Medicine, Tam Anh General Hospital advises pregnant women to do in-depth testing. Doctors performed amniocentesis on two fetuses, determining that one fetus was not abnormal, the other fetus had a mutation in the ASXL1 gene causing Bohring-Opitz syndrome.

"This is a severe genetic disorder, mostly due to a new mutation that occurs randomly during embryogenesis. Bohring-Opitz syndrome is characterized by facial features (small or triangular head, bulging, widely spaced eyes, prominent forehead, thick and close-set eyebrows, flat nose, cleft palate, small chin or underdeveloped lower jaw), posture (drooped shoulders, flexed elbows and wrists).

Children are likely to have eating problems, musculoskeletal problems, heart, kidney, urinary system defects, and severe psychomotor retardation...", said Dr. Hung.

According to this expert, cases of twins in which one fetus has a mutation in the ASXL1 gene are rare, and there are currently no statistics in world medical literature. Abnormal fetuses can affect the environment in the uterus, affecting the development of the remaining fetus.

After assessing the fetus with intrauterine growth restriction and severe genetic abnormalities, the family counselors and the pregnant woman H. wished to terminate the abnormal pregnancy.

Doctors at the Center for Fetal Medicine and Obstetrics and Gynecology consulted to intervene in the fetus, selectively terminate abnormal fetuses (procedure to deactivate fetal heartbeat), and keep the remaining fetus.

The pregnant woman was given a course of lung maturation medication at 28 weeks of pregnancy to prevent the remaining fetus from having respiratory failure if it developed into a premature birth. The selective abortion procedure went smoothly. After the procedure, the remaining fetus was monitored every two weeks by Doppler ultrasound to assess its development.

During this period, pregnant women with gestational diabetes need to be treated with insulin. Dr. Hung guides them on a nutritional regimen combined with regular blood sugar monitoring at home to try to maintain the pregnancy until week 38. In mid-April, the mother gave birth to a 2.8kg baby boy, and both mother and child are in stable health.

According to Dr. Hung, twin pregnancies account for about 2-3% of all pregnancies, and are in the high-risk group that needs to be closely monitored at a specialized medical center. Intensive fetal monitoring is necessary, including testing, creating a biological profile for each fetus, ultrasound, and measuring the umbilical artery Doppler velocity to assess the development and condition of the fetus, amniotic volume, and possible related malformations.

Identifying genetic conditions related to twins with an abnormal fetus for optimal consultation, monitoring and intervention, reducing health and mental damage to both mother and baby.

Source: https://nhandan.vn/san-phu-mang-song-thai-co-mot-thai-dot-bien-gene-asxl1-it-gap-post881626.html