Objective To analysis and summary the chromosome abnormal existing in old pregnant women from 2002 to 2013,and to provide basis for clinicians intervene the fetus with chromosome disorders.Methods The 4 539 pregnant women in Ningbo city from 2002 August to 2013 October accepted the fetal karyo type detection,were retrospective analyzed,the frequency of abnormal chromosomal karyotypes was calculated according to different age groups,and the pregnancy outcomes of the old pregnant women were followed up.Thechi-square testswere performed on the frequency dateof the abnormal chromosome karyotype,polymorphism,and serum screening of high risk for fetal chromosome detection of less than 35-years-old pregnant women.Results The total of advanced maternal age pregnancyduring the past 11 years in Ningbo City is 32 080,and the follow-up rate was 99.90％,there are 10 infants borned with chromosomal abnormalities,the 1 290 caseswere detected withadverse pregnancy.A total of 4 539 advanced maternal age pregnancyaccepted amniocentesis,in those we found 107 cases of chromosome abnormality fetus,116 cases of polymorphism.A total of 5 232 high-risk pregnant women accepted the serum screening in the same period (less than 35 years old),finding 135 cases of fetal chromosome abnormal and 69 cases of polymorphism.Conclusion To strengthen the prenatal diagnosis,especially for puerperae above the age of 39,will lower the birth rate of infants with chromosome disease and will be conducive to the high quality of population in Ningbo.

Objective To investigate rational management for pregnant women with intermediate risk of Down syndrome (DS) through a retrospective analysis of second trimester maternal screening results for DS.Methods Second-trimester triple maternal serum screening for DS was performed.High risk ( ≥ 1/270) pregnant women received prenatal diagnosis.Intermediate (1/1000 to 1/270) and low (＜1/1000) risk pregnant women received routine obstetric examination.Data of ultrasound diagnosis,karyotype analysis of amniotic fluid and postpartum follow-up were collected.Outcomes of pregnant women were retrospectively analyzed.The incidences of DS among three groups were compared.Data of different groups were compared with Fisher exact or Chi-square test.Results Eighty-six thousand eight hundred and seventy-four pregnant women accepted maternal serum screening and outcomes of 86 126 cases were followed up,among which 4342 cases were DS high risk,8196 intermediate and 73 588 low risk.The incidence of DS was 6.22‰(27/4342) for high risk,0.73 ‰ (6/8196) for intermediate risk and 0.04 ‰ (3/73 588) for low risk group.The incidence of DS was higher in high risk group than in intermediate risk group (Fisher exact probability,P=0.000),and was higher in intermediate risk group than in low risk group (Fisher exact probability,P=0.000).Comparison among the three subgroups within intermediate risk group showed no significant differences (x2 =0.047,P =0.977).Conclusions Pregnant women with intermediate risk of DS should be paid more attention.Reasonable management such as ultrasound diagnosis and prenatal consultation should be provided.

Objective To investigate the effects of growth-discordant twin pregnancies on neonatal thyroid stimulating hormone (TSH) level and congenital hypothyroidism (CH).Methods A total of 3 444 live-birth twin neonates born between January 1,2012 and December 30,2014 in Ningbo City were enrolled.Blood samples via heel puncture were collected and tested.Incidence of CH in singleton and twin neonates was compared.Deviation of birth weight larger than 25％ in twin neonates was set as the criteria for discordant growth.TSH and 17 α-hydroxylase levels in CH twins and normal twins,with or without discordant growth,were compared.Chi-square and non-parametric statistics were performed for data analysis.Results The incidence of CH in twin neonates was 0.56％ (19/3 444),higher than that in singleton neonates [0.09％ (203/225 712),x2=76.225,P＜0.01].Among nineteen CH twins,CH occurred in both twins in eight cases (four twins) and in one of the twins in eleven cases.The gestational age at birth in the eight CH twins were less than 37 weeks,with four males and four females;five were low birth weight infants;one twin were dichorionic,and three twins were monochorionic.In the eleven cases of CH occurring in one of the twins,the gestational age was less than 37 weeks in nine cases,eight were low birth weight infants,six were male and five female;seven were monochorionic and four were dichoronic twins.Five cases of temporary hypothyroidism were all low birth weight infants among the growth-discordant twins.CH cases in growth-discordant group had lower birth weight than their normal twins [M(P25-P75),2 100 (1 800-2 600) vs 2 770 (2 530-2 960) g,Z=4.369],and a higher TSH level [15.4 (11.8-18.5) vs 6.4 (4.8-7.9) mU/L,Z=6.339] (both P＜0.05).In normal twins with or without discordant growth,the neonates with a lower birth weight had a higher TSH level [3.6(2.5-4.7) vs 2.4(1.8-2.9) mU/L,Z=0.962] in weight consistent group,compared with 6.0(4.4-7.8) vs 3.4(1.9-4.1) mU/L in weight inconsistent group (Z=4.369),both P＜0.05.Conclusions In the growth-discordant twins,neonates with a lower birth weight have a higher TSH level and a higher risk of temporary hypothyroidism.

OBJECTIVE: To establish a newborn screening system for Duchenne muscular dystrophy (DMD) through assessment of MM isoenzyme of creatine kinase (CK-MM) activity. METHODS: The CK-MM level was detected using dry blood spot filter paper from 10 252 male newborns. The results were grouped based on their gestational age, sampling time and intervals between the experiments. The threshold value for CK-MM necessitating genetic testing was determined. Next-generation sequencing (NGS) was carried out for those with a CK-MM value over the threshold, and the result was verified by multiplex ligation-dependent probe amplification (MLPA). RESULTS: Based on the result of non-parametric rank sum test, the median CK-MM concentration has increased with the gestational age, and was inversely correlated with the age of the newborns among unaffected specimens. CK-MM on dry blood spot filter paper can be stable for 14 days at 2-8℃. Statistical analysis of CK-MM value of the 10 252 neonates suggested that the threshold may be set as 700 ng/mL. Exonic deletions were found in 2 confirmed cases, whose CK-MM level was greater than 2000 ng/mL. CONCLUSION Detection of CK-MM in dry blood spot filter paper has provided an effective method for newborn screening of DMD. This simple and inexpensive method can be used for large-scale screening, which is of great value to the early intervention and treatment of the disease.
Dystrophin/genetics* ; Exons ; Humans ; Infant, Newborn ; Male ; Multiplex Polymerase Chain Reaction ; Muscular Dystrophy, Duchenne/genetics* ; Neonatal Screening

Objective To investigate the correlation between serum vitamin D level and central precocious puberty(CPP)in girls.Methods A total of 103 girls(case group)with central precocious puberty from Ningbo Woman and Children's Hospital and 53 healthy girls(control group)from health check-ups in Ningbo Women and Children's Hospital were collected as subjects.The serum levels of 25-hydroxyvitamin D3[25(OH)D3]in the two groups were detected by chemiluminescence method.The weight and height of girls in the case group were measured.The serum levels of follicle-stimulating hormone(FSH)and its peak value,luteinizing hormone(LH)and its peak value,estradiol(E2),prolactin(PRL),human chorionic gonadotropin(HCG)and thyroid function were measured by radioimmunoassay.The peak value of LH/FSH was calculated.B ultrasound examination of uterine adnexa was completed to calculate uterine volume and bilateral ovarian volume.According to the results of serum 25-(OH)D3,girls in the case group were divided into normal vitamin D group and vitamin D deficiency group,and the differences of hormone levels,uterine and ovarian development between the two groups were compared.Results The serum level of 25-(OH)D3 in case group was lower than that in control group,and the vitamin D deficiency rate in case group was higher than that in control group,with statistical significance(P<0.05).The age of breast nodules in vitamin D deficiency group was lower than that in vitamin D normal group(P<0.05).There were no significant differences in body weight,height,body mass index(BMI),uterine volume and left ovarian volume between vitamin D normal group and vitamin D deficiency group(P>0.05),and the right ovarian volume in vitamin D deficiency group was significantly higher than that in vitamin D normal group(P<0.05).There were no significant differences in serum levels of FSH,LH,PRL,HCG,peak value of FSH and thyroid function between normal and deficient groups(P>0.05).The levels of E2,LH and LH/FSH in vitamin D deficiency group were significantly higher than those in vitamin D normal group(P<0.05);25-(OH)D3 was negatively correlated with LH/FSH peak(r=-0.197,P<0.05),but was not significantly correlated with thyroid function,FSH,LH,PRL,E2,HCG,FSH and LH peak(P>0.05).Conclusion Vitamin D deficiency is associated with central precocious puberty in girls.Vitamin D deficiency may lead to early onset of precocious puberty.Vitamin D deficiency may affect the hypothalamic-pituitary-gonadal axis function,resulting in changes in reproductive hormone indexes and consequent increase in ovarian volume in girls.

The biological samples of oral genetic diseases and rare diseases are extremely precious. Collecting and preserving these biological samples are helpful to elucidate the mechanisms and improve the level of diagnose and treatment of oral genetic diseases and rare diseases. The standardized construction of biobanks for oral genetic diseases and rare diseases is important for achieving these goals. At present, there is very little information on the construction of these biobanks, and the standards or suggestions for the classification and coding of biological samples from oral and maxillofacial sources, and this is not conducive to the standardization and information construction of biobanks for special oral diseases. This consensus summarizes the background, necessity, principles, and key points of constructing the biobank for oral genetic diseases and rare diseases. On the base of the group standard "Classification and Coding for Human Biomaterial" (GB/T 39768-2021) issued by the National Technical Committee for Standardization of Biological Samples, we suggest 76 new coding numbers for different of biological samples from oral and maxillofacial sources. We hope the consensus may promote the standardization, and smartization on the biobank construction as well as the overall research level of oral genetic diseases and rare diseases in China.