An angel is a symbol of joy and hope, and the birth of a baby is like the arrival of an angel, bringing endless joy and hope to a family. However, the use of the word “trapped”, people are often associated with the “confinement, pain, suffering” feeling, indeed, encountering a baby suffering from a birth defect, of course, from time to time will give you some joy and touch, but more is undoubtedly a heavy The first case is that of a baby with a birth defect. The first case: do not take the amniocentesis lightly The young couple was found to be suffering from factors that make it difficult to conceive during the preconception medical examination, the male partner is oligospermia and the female partner is polycystic ovary syndrome. After my treatment for more than half a year, they finally got pregnant, which was a very happy thing, but when they were almost 5 months pregnant, their prenatal diagnosis of Down’s syndrome screening result was high-risk, and they were recommended to have further amniotic fluid cell examination, because it was so difficult to get pregnant, and they read on the Internet that amniocentesis has the risk of causing miscarriage, so they came to me for advice. The couple finally underwent further tests, but the chromosomal result of the amniotic fluid cells was trisomy 21, and they had to undergo an induced abortion at 5 months of pregnancy. Analysis: Trisomy 21, also known as Down syndrome, is a genetic disorder caused by an abnormal number of autosomes, also known as chromosomal disease. The affected child has a special face and is accompanied by varying degrees of mental retardation, growth retardation and other symptoms. The cause is often an aberration in the chromosomes of the parents’ gametes (sperm or eggs), most often related to the age of the mother’s ovaries. The oligospermia and polycystic ovary syndrome in this case are also suggesting that impaired sperm and egg development may be the direct cause. Counseling: Although the results of Down’s syndrome screening have 99% false positives and 0.5% false negatives, meaning that only 1 out of 100 cases in the population diagnosed with high risk is a true Down’s syndrome child, and 5 out of 1000 cases in the population diagnosed with low risk is still a Down’s syndrome child, it is still the most effective method of early screening available in obstetrics. For a family, the birth of a child with Down syndrome will undoubtedly ruin the family’s lifelong happiness and bring a huge burden to society. The routine Down’s syndrome screening in hospitals is performed in the 16th to 20th week of pregnancy, while the early Down’s syndrome screening we now recommend is performed in the 11th to 13th week of pregnancy, and its accuracy is significantly higher than the routine test. One of the ways to ensure a normal pregnancy is to have early screening after pregnancy, or to consider in vitro fertilization-embryo preimplantation genetic diagnosis, which we call third-generation IVF. Case 2: Can we have children with a history of epilepsy Xiao Zhang, a male, started to have epilepsy symptoms in junior high school and had grand mal and petit mal seizures, the cause of which was never found at the clinic. She has a family history of epilepsy from her maternal grandmother. Pre-conception counseling on the possibility of childbirth. Analysis: Epilepsy is a chronic seizure disorder of the brain caused by abnormal discharges of neuronal populations in the gray matter of the brain. The clinical features are mainly sudden onset of paroxysmal, transient, recurrent brain dysfunction, manifested as a convulsive or non-convulsive disorder of sensation, consciousness, behavior, etc. Primary epilepsy refers to epilepsy whose cause cannot be found by the methods currently available to the clinic, and is referred to as true, idiopathic or cryptogenic epilepsy. Secondary epilepsy refers to seizures caused by other diseases, and is only secondary to a symptom of another disease, so it is also known as “symptomatic epilepsy”. Primary epilepsy is hereditary and has polygenic inheritance characteristics, caused by a combination of genetic and environmental factors, with a general incidence of 4% in children, 8 times higher than the general population. If a primary patient has first- or second-degree relatives with epilepsy, the risk of recurrence is high, which is not conducive to eugenics. Treatment medications may have an effect on the fetus, and female patients should, in principle, avoid childbirth. In addition to medication factors, seizures during pregnancy and delivery can cause prolonged labor, fetal hypoxia or asphyxia, and other risks of delivery. Consultation: Xiao Zhang can be diagnosed with primary epilepsy because the cause has not been found. There is still some controversy about the inheritance of the next generation of primary epilepsy. Some countries such as Japan and Sweden have legislated to prohibit the birth of a child with primary epilepsy from a eugenic point of view. It is a cruel thing to prohibit a person from having a child, and the incidence of the offspring can be used as a reference, and the decision still lies with Xiao Zhang himself. However, one must try to use less impactful drugs and the lowest dose before having children. Case 3: Effect of neurofibroma on fertility Xiao Wang, a male, was found to have multiple nodular soft masses under the skin of his trunk during his pre-pregnancy physical examination, and was diagnosed by me as multiple neurofibroma, but his main story was that he had been diagnosed as multiple lipomas in other hospitals and had no family history, but since the disease was not common and I had only seen one female patient in 20 years of practice, I suggested him to go to Huashan Hospital However, since the disease is common and I have only seen 1 female patient in 20 years of practice, I suggested him to go to the Department of Dermatology of Huashan Hospital for further pathological confirmation, and the feedback confirmed the diagnosis of multiple neurofibromas. Analysis: Neurofibroma is a skin disease caused by neuroectodermal dysplasia, which is an autosomal dominant genetic disorder. The causative gene can be produced by mutation in germ cells or inherited from either parent. The clinical features are scattered round or lobulated nodules of varying sizes on the trunk and extremities, often with a tip, sometimes numbering in the hundreds, some with skin and subcutaneous tissue hyperplasia, and may be accompanied by hyperpigmentation, and biopsy may confirm the diagnosis. Neurological symptoms, seizure-like epilepsy or mental retardation may occur when the tumor is intracranial or intravertebral, and 3% to 4% of patients may eventually develop neuroma malignancy and die. If the onset of neuroma is early and is complicated by neurological symptoms, the prognosis is poor and marriage is generally contraindicated. Pregnancy can also lead to rapid development of existing damage and new rashes, so even if symptoms are mild, marriage should be considered carefully. The result of the diagnosis will definitely have an impact on the couple’s relationship and even family stability, so the first task of the consultation is to gain his wife’s understanding and compassion. Secondly, although Wang’s current symptoms are still mild, his fertility problem must be carefully considered after consultation between the couple due to the high risk of recurrence of the offspring. Other options to address fertility issues are not yet available as there are no relevant genetic probes for clinical diagnosis, so IVF options for pre-implantation genetic diagnosis are also not possible at this time, and adoption or donor insemination options are for reference only. Genetic factors, environmental factors, and a combination of both are the direct causes of birth defects, in addition to the harm caused by various teratogenic factors during pregnancy, which cannot be ignored. In recent years, the environment of human existence is deteriorating, the types and incidence of birth defects are increasing year by year, and more and more problems are found during our preconception checkups. In addition to the need for the government and society to pay more attention to environmental issues, it is important for every young couple preparing to have a baby to have a good premarital, preconception and prenatal examination and health care. The angels will also look after the prepared families.