First clinical trial
Preimplantation genetic testing kit for Monogenic diseases

Ms Zhang and Mr Wang plan to have a baby, for the couple have realized that the incidence of genetic disorders and sort is more, worry about fertility problems, in March 2020, the couple came to a Basecare cooperated hospitals in guizhou province for genetic counseling, because the two sides have no family history, the doctor suggested that genetic disease carriers screening before childbirth.
After testing, it was found that both of the couples carried a pathogenic mutation on the deafness-related gene GJB2. Later the couple decided to receive IVF treatment to prevent the birth of deaf children.

Ms.Zhang

Guizhou

2020

A couple had been married for six years and the wife had never conceived. The couple had been hoping for a healthy baby. In October 2015, the couple was introduced to a hospital in Jiangxi province by a friend. After being recommended by a clinical doctor, the husband of the couple chose the Y chromosome microdeletion test, and found that the AZFc region of Y chromosome of the man was missing, which might lead to sperm deficiency or absence of sperm. In combination with other clinical indicators, doctors at the hospital recommended that the patient have healthy offspring through TESE and artificial insemination. The couple then accepted doctors' advice and had a healthy baby by artificial insemination in June 2019.

Mr. Zhou

Jiangxi

2015

In 2016, a pregnant woman surnamed Ge, 37 years old, with a gestation of 18W, was received by a hospital in Anhui province in cooperation with Basecare. She underwent a routine serological examination, and the screening results suggested a low risk. But doctors, mindful of the woman's age, recommend noninvasive chromosome aneuploidy screening (NIPT). After informed consent, the pregnant woman and her family decided to have the test at 20W+2, and the screening results suggested that the fetus had a high risk of trisomy 21. Antepartum diagnosis by amniocentesis indicated trisomy 21 syndrome. After careful consideration, the pregnant woman finally chose to terminate the pregnancy, avoiding the birth of children with down syndrome.

Ms. Ge

Anhui

2016

The woman, surnamed Dai, 40 years old, is an elderly woman who gave birth to a healthy baby. Prenatal screening at a hospital in Jiangsu province in March 2016. Considering the pregnant women, in the 17 w + 5 of pregnancy, the doctor suggested that the pregnant women undergo noninvasive chromosome microdeletion and microduplication screening (NIPT Plus), detection results suggest 22 segments of chromosomes exists abnormal signal loss (suspected), after confirmed by an amniocentesis that absence pathogenic fragments chromosome 22, main clinical manifestations of heart defects, thymus aplasia, abnormal facial features, etc. The couple sought genetic counseling from their doctor about the abnormality to develop a follow-up plan.

Ms. Dai

Jiangsu

2016

The 36-year-old woman, who gave birth to a healthy baby for the first time, was forced to abort her pregnancy after suffering a stillbirth more than a month later. Later, it was found that both the husband and wife were carriers of malaria. In 2018, the couple came to a reproductive center in a hospital in guangzhou, which has helped more than 100 couples avoid the nightmare of family genetic diseases since it was approved to use third-generation test-tube technology in 2018. Ms. Yu received a healthy embryo transfer at the fertility center and successfully gave birth to a healthy baby girl in November 2018, fulfilling her dream of a second child.

Ms.Yu

Guangzhou

2018

In 2018, a patient surnamed Gao, 38, who had been pregnant three times and suffered three miscarriages, was encountered in a hospital in hunan province in cooperation with Basecare. Considering the age of the patient, and repeated abortion more than 2 times, the third abortion, the doctor recommended the abortion tissue for genomic chromosome abnormalities. The results showed trisomy 16. Trisomy 16 is mostly new chromosomal abnormality, and the risk of recurrence is low. Trisomy 16-trisomy syndrome occurs frequently in chromosomal abnormalities in humans, and the non-chimeric type generally miscarries in the first three months of pregnancy. When giving birth again, suggest to undertake antenatal relevant examination and antenatal diagnose.

Ms.Gao

Hunan

2018

Ms Hu, 30, from xi 'an, has regular periods but has been married for four years without a child. In November 2018, the couple visited a Basecare cooperated hospital in xi 'an. After multiple tests, the husband was found to be a carrier of a balanced translocation of chromosomes, which may have been the cause of the couple's failure to conceive for years. The doctor suggested the use of IVF treatment, using PGT-SR technology to detect the embryo, the final two completely normal embryos. A well-developed embryo was selected to be implanted and amniocentesis was performed at the 18th week of pregnancy, showing that the fetus was free of chromosomal abnormalities. On December 22, 2019, Ms. Hu delivered a healthy boy weighing 3.15kg at term.

Ms.Hu

Xi'an

2018

A couple in Hunan province who gave birth to a child died of respiratory failure shortly after birth. In October 2018, the couple came to a hospital in hubei province, where clinicians judged that the child was suspected of spinal muscular atrophy. They suggested that they perform a copy number test of the SMN1 gene, and both couples were found to be carriers of the heterozygous deletion of the SMN1 gene. It is an important guideline that they have a 25% chance of having a child with spinal muscular atrophy at least once again, regardless of whether their previous children have other problems.

Mr. Sun

Hubei

2018

In 2019, a pregnant woman surnamed Wang was admitted to a hospital in Shandong province. This was her third pregnancy, after two aborted fetuses. Ms Wang, 37 years old, is 14 weeks pregnant. In order to ensure the smooth birth of the baby, the doctor suggested amniocentesis for high-resolution CNV-seq test. The test found that the patient had about 95Mb of duplication on chromosome 13, and the abortion rate was up to 100% because only trisomy or monomer zygotes could be produced. This also explains why the first and second babies do not develop normally. Finally, the pregnant woman chose to terminate the pregnancy, although there is regret, but also glad to prevent the birth of defective children in time.

Ms. Wang

Shangdong

2019

A couple with normal phenotype, married for 3 years, the woman repeatedly miscarried 3 times, but there was no obvious abnormality of karyotype in both husband and wife. In 2019, he was admitted to a hospital in Guizhou province that cooperated with Basecare for PGT-A test. The couple had five embryos tested for PGT-A. PGT-A detection and data analysis of 5 embryos revealed that 2 embryos were normal and 3 embryos had abnormal chromosome number. After a comprehensive evaluation of two normal embryos, doctors eventually selected one to be implanted. After October, the pregnant woman had a successful live birth, and the baby's indicators were good.

Mr. Zhao

Guizhou

2019

In October 2019, the male child Z was born and is G1P1. He was treated in a hospital in Shenyang, Basecare Cooperative Hospital because of "15 days of skin damage". After the child was born, there was a large erythema on the skin below the knee of the left lower limb and left hand, with bleeding and exudation, followed by blister ulceration and crusting, and the clinical diagnosis was epidermolysis bullosa. WES sequencing is recommended to find the cause. Through Trios-WES detection, it was found that it carried a compound heterozygous variation of the COL7A1 gene related to the phenotype, and the disease associated with G6PD was broad bean disease, so it is recommended that family members of children in the follow-up treatment should avoid eating broad beans as much as possible to prevent the expression of anemia.

Patient Z

Shenyang

2019

Ms Li and her husband have been married for two years without having a baby, and the sperm tests of her husband are normal. Through inspection, Ms. Li ultrasound showed that the left side have a follicle, the right side do not have follicles, hormone detecting FSH values on the high side, also in 2019, Ms. Li did an infertility-related gene test in Basecare cooperated hospital in Xinjiang and found a possible pathogenic mutation in the ERCC6 gene coding region. ERCC6 gene mutations can lead to ovarian premature aging, the characteristics of the disease are secondary amenorrhea and ovarian insufficiency, mystery that has baffled Ms Li two years finally solved.

Ms.Li

Xinjiang

2019

Ms Zhang and Mr Wang plan to have a baby, for the couple have realized that the incidence of genetic disorders and sort is more, worry about fertility problems, in March 2020, the couple came to a Basecare cooperated hospitals in guizhou province for genetic counseling, because the two sides have no family history, the doctor suggested that genetic disease carriers screening before childbirth.
After testing, it was found that both of the couples carried a pathogenic mutation on the deafness-related gene GJB2. Later the couple decided to receive IVF treatment to prevent the birth of deaf children.

Ms.Zhang

Guizhou

2020