Prenatal diagnosis has entered the molecular era, using more advanced technology to make a good life the first hurdle

Recently, the National Health and Health Commission issued the "Administrative Measures for Prenatal Diagnosis Technology", which made specific regulations on the management, approval, and implementation of prenatal diagnosis

"Prenatal examination is a kind of general screening, and every pregnant woman has to do

In recent years, Jiang Yulin, deputy chief physician of the Department of Obstetrics and Gynecology of Peking Union Medical College Hospital, has clearly felt that the demand for prenatal diagnosis services is increasing, and the number of outpatient services is increasing

Effective Ways to Block Birth Defects

The 2012 "China Birth Defect Prevention Report" shows that the incidence of birth defects in China is about 5.

"Prenatal diagnosis is an effective way to prevent birth defects

"Prenatal diagnosis is also the basis and basis for intrauterine treatment

In addition, some fetal treatment after birth also requires prenatal diagnosis

Which pregnant women need prenatal diagnosis?

According to the newly released "Administrative Measures for Prenatal Diagnosis Technology", if a pregnant woman has one of the following conditions, the treating physician should recommend prenatal diagnosis: polyhydramnios or oligohydramnios; abnormal fetal development or suspicious fetal malformation; Those who have been exposed to substances that may cause congenital defects in the fetus in the first trimester; those who have a family history of genetic diseases or who have delivered a baby with severe congenital defects; those who are over 35 years old

The above management measures also mentioned that for prenatal diagnostic techniques and diagnostic results, the treating physicians should inform pregnant women or their families about the safety, effectiveness and risks of the technology, so that pregnant women or their families can understand the possible risks and inconsistencies in the results of the technology.

New technologies for prenatal diagnosis continue to emerge

Prenatal diagnosis technology programs include genetic counseling, medical imaging, biochemical immunity, cytogenetics and molecular genetics

Genetic counseling is suitable for couples with a clear family history, or who want to have another pregnancy but have previously had a child with a serious genetic disorder/defect

Ultrasound, fetal MRI and other medical imaging methods are mainly used to screen for problems in the fetal body or organ structure, such as congenital heart disease, diaphragmatic hernia, short limbs, hydrocephalus,

According to Ruan Yan, in addition, Down's screening is a serum biochemical immune screening, which is generally accepted by the public; amniocentesis cytogenetic examination is a classic interventional prenatal diagnosis.

"In addition to the above-mentioned traditional prenatal diagnosis techniques, some new technologies are now being used in prenatal diagnosis, and prenatal diagnosis has entered the molecular era

Traditional molecular diagnostic technologies such as PCR technology, Sanger sequencing technology and multiplex ligation-dependent probe amplification technology, as well as emerging molecular diagnostic technologies such as chip technology, high-throughput sequencing technology, whole-exome sequencing and whole-genome sequencing have been used one after another.

For example, sequencing analysis of cell-free DNA fragments in maternal peripheral plasma can obtain fetal genetic information and interpret it; chromosomal microarray technology based on chip platform and CNV seq technology based on high-throughput sequencing platform are used for diagnosis.

"There are also some special diseases that can be examined by the fetus
.
This method can place an endoscope similar to laparoscopy into the amniotic cavity to directly observe the body surface and structure of the fetus
.
" Ruan Yan introduced
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With so many prenatal diagnostic techniques, how to choose? Jiang Yulin said that some of these prenatal diagnosis technologies are progressive, and some complement each other
.
"But in any case, when a doctor chooses any prenatal diagnosis technology, it must proceed from its medical indications, and also consider the contraindications and the advantages and disadvantages of the technology itself
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" Jiang Yulin said
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A multi-pronged approach to promote the development of prenatal diagnosis

New technologies for prenatal diagnosis could nip more cryptic, complex genetic diseases in the bud
.
However, in Jiang Yulin's view, in order to promote the further rational development of prenatal diagnosis, it is necessary to further improve the relevant mechanism of prenatal diagnosis, strengthen the construction of professional teams, and popularize the technical knowledge of prenatal diagnosis to the public
.

Jiang Yulin pointed out that in the face of new technologies for prenatal diagnosis, doctors should not stick to the old ways, but must constantly learn new knowledge and new skills to improve their ability to diagnose prenatally
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For pregnant women and their families, it is neither superstitious nor blindly rejecting new technologies for prenatal diagnosis.
It is necessary to fully communicate with doctors and choose prenatal diagnosis technology rationally
.

For new technologies to enter the clinic, technical evaluation, approval and quality control are required.
Jiang Yulin said that this requires relevant health and health departments to improve their professional and technical levels, effectively and reasonably approve, and do a good job in quality control
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Jiang Yulin said that at present, the National Health and Health Commission is carrying out the quality assessment of prenatal screening and diagnosis, and will assess the relevant prenatal screening and diagnosis institutions from the aspects of clinical consultation, laboratory testing and ultrasound evaluation.
The quality evaluation of the work will be strengthened, and the supervision will be strengthened to ensure the high-quality development of the national prenatal diagnosis work and realize the fairness and accessibility of medical services
.

In addition, Jiang Yulin believes that the related mechanism of prenatal diagnosis should be further improved
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Prenatal diagnosis is a dual-entry mechanism, that is, institutions must be qualified, and practitioners must also be qualified
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In order to allocate resources for prenatal diagnosis reasonably, it is necessary to allow a certain number of health care institutions to be approved to carry out prenatal diagnosis
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On the other hand, it is necessary to strengthen institutional cooperation to revitalize corresponding resources, such as enabling institutions with prenatal diagnosis qualifications and institutions without such qualifications to have smooth referral channels, and allowing some institutions to carry out benign cooperation with laboratories of third-party institutions
.

"Prenatal diagnosis is a technical task.

It is not enough to have institutions alone, but also a professional team
.
" Jiang Yulin emphasized that it is necessary to strengthen the training of prenatal diagnosis technicians, especially for staff in underdeveloped areas in China.
Provided technical training to realize point-to-point planning and assistance, and gradually change the uneven distribution of prenatal diagnosis resources
.

Jiang Yulin also appealed that it is very important to strengthen the public's understanding of health breeding knowledge
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In addition to regular obstetric examinations, pregnant women also need to understand the common sense of prenatal diagnosis, especially in the context of the increasing number of elderly mothers, they should try their best to do standardized examinations
.
He told reporters that the country is currently promoting the rational development of prenatal diagnosis through some popular science projects
.