Detect fetal abnormalities early for confident family planning

With the current social conditions, couples are getting married later, which also makes pregnancy more difficult and increases the risk of whether the fetus will be healthy and strong… How great would it be if we could check whether the baby to be born has any abnormalities or not? Because modern medical technology can diagnose these abnormalities from the fetus while still in the womb.

 

Main Causes of Fetal Abnormalities

Fetal incompleteness or abnormalities can occur from

      ๐  Genetic risks such as thalassemia, hemophilia, etc.

      ๐  Risks from advanced maternal age such as Down syndrome, etc.

      ๐  Abnormalities that may occur spontaneously in the fetus from abnormal fetal development during the embryonic stage, such as anencephaly, hydrocephalus, cleft lip and palate, etc.

 

Ultrasound Examination to Monitor Fetal Development

Ultrasound examination helps diagnose the physical characteristics of the fetus well, such as the completeness of the head, arms, legs, and torso. The benefits of this examination vary depending on the gestational age as follows:

      ๐  First 3 months - Useful for calculating gestational age, determining intrauterine or ectopic pregnancy, checking if the fetus is developing, or detecting uterine fibroids and ovarian cysts more clearly than at later gestational ages.

      ๐  4 to 6 months - The physical characteristics of major fetal organs become clearer. If severe abnormalities are found, such as absence of the skull or an open abdomen, pregnancy termination may be considered. If the fetus has a cleft lip or is significantly smaller than the standard, amniocentesis may be performed to check for chromosomal abnormalities to help decide whether to terminate the pregnancy.

      ๐  Last 3 months - Ultrasound is used to observe changes or growth of the fetus and whether the fetal organs remain intact. Some abnormalities may not be clear in the early stages, such as kidney and urinary tract abnormalities or hydrocephalus, to plan for diagnosis and treatment after birth.

There is no clear standard on how many ultrasounds should be done, as it depends on the doctor’s assessment of each mother and the readiness of the healthcare facility.

 

Detecting Invisible Abnormalities with Chromosome Testing

The fetus may have no visible physical abnormalities. Chromosome testing examines the genetic unit level. Doctors need fetal cell samples for testing. Currently, fetal cells can be tested both before and after pregnancy.

      ๐  Pre-pregnancy stage - Used with in vitro fertilization, where embryonic cells before implantation into the mother’s uterus are tested for chromosomal abnormalities.

      ๐  Post-pregnancy stage - Used for pregnant women aged 35 and over. Amniocentesis is performed at 16-18 weeks gestation to collect fetal cells floating in the amniotic fluid for chromosomal abnormality testing. The most common abnormality found is Down syndrome, where there is an extra chromosome 21.

 

Gene Abnormality Testing from the Embryonic Stage

Gene abnormality testing examines abnormalities in the sequence of genetic units called “genes.” It can be done during in vitro fertilization or after pregnancy. Diseases that may be detected include gene-related disorders such as thalassemia and hemophilia.

 

The diagnosis of fetal diseases is continuously developing and becoming more accurate, which will increase the possibility for couples who want fewer children but with strong and healthy offspring.