Prenatal Diagnosis Centre

In July 2009, the Prenatal Diagnosis Center of the Second Affiliated Hospital of Harbin Medical University was formally approved as the only "Heilongjiang Provincial Prenatal Diagnosis Center" in the province. It has an independently established prenatal diagnosis organisational structure and a relatively complete service system, and is able to undertake prenatal screening and prenatal diagnosis service tasks. It is the Heilongjiang Provincial Prenatal Diagnosis Center (the only one), the Heilongjiang Provincial Prenatal Screening and Diagnosis Training Base, the Heilongjiang Provincial Training Base of the National Birth Defect Prevention and Treatment Talent Training Programme, the chair institution of the Heilongjiang Provincial Prenatal Screening and Prenatal Diagnosis Specialty Alliance, and a member institution of the Peking Union "Friends of PUMCH" Prenatal Diagnosis Specialty Alliance.

Diagnosis and treatment services: the Prenatal Diagnosis Center provides patients with genetic counselling for healthy reproduction, medical imaging prenatal diagnosis, prenatal screening and diagnosis of birth defects and genetic diseases, cytogenetic prenatal diagnosis, molecular genetic prenatal diagnosis and pre-pregnancy healthy reproduction examinations, and has formed a series of distinctive discipline clusters in related disciplines, namely infertility/sterility – recurrent miscarriage – pre-pregnancy – prenatal.

The Prenatal Diagnosis Center of our hospital adopts the model of "ultrasound measurement of fetal nuchal translucency (NT) thickness — second-trimester maternal serum screening / non-invasive DNA testing — ultrasound examination — chromosome analysis / molecular genetic testing", and works jointly with the Departments of Obstetrics and Gynaecology, Ultrasound, Pathology, Paediatrics, Paediatric Surgery and Cardiac Surgery to combine fetal ultrasound structural examination with maternal serum marker testing and fetal chromosome karyotype analysis, carrying out prenatal screening and prenatal diagnosis for the pregnant population in the Heilongjiang region, which can effectively increase the detection rate of birth defects.

At present, the provincial Prenatal Diagnosis Center has established a prenatal diagnosis or perinatal multidisciplinary consultation system, working jointly with multiple disciplines including obstetrics, prenatal diagnosis, paediatric surgery, ultrasound medicine and neonatology to conduct joint consultations on fetal structural malformations before birth, comprehensively assess fetal prognosis, provide a platform before birth for postnatal referral and subsequent treatment, and manage postnatal follow-up and surgery more systematically. During the epidemic period it also conducted online MDT consultations with the Prenatal Diagnosis Department of the First Affiliated Hospital of Zhengzhou University, and it is a member institution of the "Friends of PUMCH" Prenatal Diagnosis Specialty Alliance. The prenatal multidisciplinary consultation system is an effective management model that helps reduce the serious consequences of birth defects.

Projects undertaken:

1. Health education and health promotion for the prevention of congenital defects and hereditary diseases.

2. Genetic counselling related to prenatal diagnosis.

3. Prenatal screening and diagnosis of common chromosomal diseases, neural tube defects, severe limb malformations visible on ultrasound, etc. (systematic fetal ultrasound screening, chorionic villus sampling at 12–13 weeks + 6 days, amniocentesis at 18–22 + 6 weeks, amniocentesis in late pregnancy, cordocentesis, etc.).

4. Prenatal screening items: second-trimester Down syndrome screening, deafness gene screening, detection of cell-free fetal DNA in maternal peripheral blood, folate metabolism disorder, carrier screening for monogenic hereditary diseases, pre-eclampsia screening, spinal muscular atrophy (SMA) carrier screening, etc.

5. Cytogenetic and molecular genetics laboratory items: peripheral blood chromosome analysis, amniotic fluid cell chromosome karyotype analysis, cord blood chromosome karyotype analysis, fluorescence in situ hybridisation of amniotic fluid cells, fluorescence in situ hybridisation of miscarriage villi, low-depth whole-genome sequencing technology for peripheral blood, low-depth whole-genome sequencing technology for amniotic fluid, low-depth whole-genome sequencing technology for villi, whole-exome gene testing technology, etc.

6. Acceptance of referrals of pregnant women to be given prenatal diagnosis discovered by medical and health institutions that carry out prenatal examination and midwifery techniques, and referral of cases in which diagnosis is difficult.

7. With the consent of family members, relevant genetic examination of aborted fetuses.

8. Acceptance of practitioners from primary-level units of institutions throughout the province that intend to carry out prenatal screening for specialty training, with training conducted separately by specialty in clinical specialties, laboratory specialties, prenatal ultrasound screening, etc.

Staffing

There are currently 1 doctoral supervisor, professor and chief physician, 2 attending physicians, 2 nurse-in-charge and 2 technicians. Among them there is 1 postdoctoral fellow, 1 doctoral student in progress, 4 with a master's degree and 2 with a bachelor's degree.

Teaching and research

As the Heilongjiang Provincial Prenatal Screening and Diagnosis Training Base, it has successfully held six sessions of the "Heilongjiang Provincial Prenatal Screening and Diagnosis Technology Training Course" since 2012. In 2020 our province undertook the National Birth Defect Prevention and Treatment Talent Training Programme and conducted specialty talent training, and by the end of 2022 had successfully completed three sessions covering five specialties and more than 300 person-times of training. This has greatly raised the professional level of prenatal diagnosis medical practitioners in Heilongjiang Province and promoted the progress and development of prenatal diagnosis-related technologies in our province.