I. Fetal malformation, the mother’s eternal pain!
1.The birth check was normal, but the child was born with six fingers missing
Ms. Dai, a new mother from Chongqing, felt very sad when she gave birth to a deformed child not long ago. During the pregnancy test, two ultrasounds showed results of fetal hand clenching and partial limb unclear, when she asked the doctor what this was, the doctor just said the child was normal and told her to just go home and get well.
After 6 months of pregnancy, Ms. Dai also underwent 4D ultrasound and fetal malformation screening at this hospital. After each examination of the child, the doctor said that everything was normal and no fetal abnormality was found. However, it was shocking that after the birth of the child, the doctor told her that the child had deformed hands and feet. Ms. Dai could not understand why everything was normal during the maternity checkup, but the child was found to have limb deformities after birth.
2. The birth check was normal, but the child was found to have precocious heart disease after the full moon
The same can’t be said for Mr. Feng, the Wuhan daddy, who also couldn’t understand why his child was suffering from precocious heart disease despite a normal maternity checkup. Mr. Feng said his wife had a prenatal heart ultrasound examination, when the report showed that “fetal heart results did not show any significant abnormalities”, and then successfully gave birth to a baby girl, the family did not find any abnormalities in the child.
But just after the child passed the full moon, Mr. Feng noticed that the child had symptoms of breathing difficulties. The child nodded frequently and began to look blue, which scared Mr. and Mrs. Feng. So they rushed the child to the hospital for a checkup, only to find out that the child had “congenital heart disease with aortic arch dissection (type A)”. This diagnosis caused Mr. Feng to fall from heaven to hell in an instant.
Why was the baby born with a deformity when the prenatal test results were normal? First of all, let’s understand the causes of fetal malformation.
What are the causes of fetal malformation?
The causes of fetal malformation are mainly divided into maternal or environmental factors and genetic factors.
1.Maternal or environmental factors
(1) Radiation
During early pregnancy, the risk of fetal malformation will increase significantly when the fetus absorbs more than 5 rad of radiation.
(2) Chemical agent
Certain drugs can cause fetal malformation, especially when used during early pregnancy. Therefore, if you want to use drugs during pregnancy, then be sure to use them rationally under the guidance of a doctor. It is worth mentioning that rural women should avoid exposure to pesticides during pregnancy and heavy metals (mercury, lead, etc.) can increase the risk of fetal malformations.
(3) Infections
Infection of the mother-to-be with certain microorganisms during pregnancy can lead to fetal infection and even and cause fetal malformation, such as rubella, giant cell, herpes simplex, toxoplasmosis, syphilis, etc.
(4) High fever during early pregnancy
(5) High blood sugar during pregnancy
Poor glycemic control during early pregnancy in pregnant women with diabetes can increase the risk of fetal malformations, mainly congenital heart disease, neural tube malformation, cleft lip and palate, etc.
(6) Dietary factors
In addition, the lack of folic acid in food can also increase the risk of fetal neural tube defects and cleft lip and palate.
2.Genetic factors
There are also genetic factors that cause fetal malformation, mainly refers to the abnormalities of genetic material from parents that cause malformation. For example, parental chromosomal abnormalities, parents carry mutated genes, etc. Sometimes the fertilized egg itself has chromosomal segregation abnormalities or gene mutations. Sometimes it is because the parents are consanguineous and there is an increased risk of both parents carrying the same abnormal gene, which leads to a significant increase in the incidence of certain invisible genetic diseases.
What are the tests for fetal malformation?
1.Fetal ultrasound
This is a common method to check for fetal malformations and is usually performed at 20 to 24 weeks of pregnancy. If the ultrasound finds that the fetus is seriously deformed at this time, it should be aborted in time to avoid causing more pain to the pregnant woman in the late pregnancy.
However, not all abnormalities can be detected by ultrasound, the congenital stupidity or some tiny abnormalities caused by chromosomal abnormalities can not be detected by ultrasound. In addition, there are some malformations that do not manifest until late in pregnancy, so ultrasound testing at this time will not detect fetal malformations. Moreover, because of the limited resolution of ultrasound and the technology, some malformations may be missed during the ultrasound examination.
2.Fetal magnetic resonance examination
This is also one of the methods to detect fetal malformation. Magnetic resonance has a broad prospect of application in obstetrics because of its multi-bit imaging, high soft tissue resolution, no radiation, and safety to the fetus. At present, fetal MRI, has become an important verification and supplementary diagnostic tool in prenatal diagnosis for fetal anomalies detected by ultrasonography. Especially in the diagnosis of fetal central nervous system abnormalities, such as the identification of cerebral hemorrhage and other aspects have more outstanding performance.
3.Interventional prenatal diagnosis
This test method refers to the chromosomal karyotype analysis and genetic testing of fetal cells through techniques such as amniocentesis and cord blood puncture, so as to make a diagnosis of certain fetal congenital diseases.
Fourth, can all fetal malformations be detected?
The preceding examples are shocking, and the concern of mothers-to-be is – can all fetal abnormalities be detected?
1.The main pregnancy test is to check the major structure
The results of the maternity test are related to the position of the fetus and the degree of structural abnormalities, but not all structural abnormalities of the fetus can be detected. If some of the fetus’s limbs are obscured, it is difficult for the doctor to detect them clearly. However, if the fetus has a major abnormality, the doctor can still detect it.
The ultrasound examination of the birth can detect most of the structural problems of the fetus, mainly to check if the fetus has symptoms such as hydrocephalus, spina bifida, congenital single-chambered heart and anencephaly. If the fetus has these symptoms, it has little chance of surviving after birth.
Because of the current limited medical care, not all problems of the fetus can be detected by the maternity test. It is difficult for family members to make judgments based on the ultrasound results, as the examination of the fetal condition mainly relies on the doctor’s comprehensive judgment of all tests. If the family has doubts about the diagnosis, then they can go to a better medical institution for consultation.
2.Ultrasound examination may have missed diagnosis
Ultrasonography, which can detect fetal chromosomal abnormalities and detect fetal malformations, is currently the main way of prenatal diagnosis. However, ultrasound examination also has limitations and may be missed or misdiagnosed due to factors such as the abdominal wall condition of the pregnant woman being examined and the position of the fetus. Moreover, when the malformation is not developed to a certain extent, it may not be fully revealed by ultrasound, so ultrasound examination cannot completely exclude all fetal malformations. Currently, the detection rate of fetal anomalies in developed countries abroad using ultrasound is only 70%.