Induced abortion and COVID-19 as contributing factors to declining fertility in Sardinia.

OBJECTIVES: Decreasing fertility implies considerable public health, societal, political, and international consequences. Induced abortion (IA) and the recent COVID-19 pandemic can be contributing factors to it but these have not been adequately studied so far. The purpose of this paper is to explore the relation of IA incidence and the COVID-19 pandemic to declining rates of delivery, as per our Sardinian experience. METHODS: We analyzed the registered data from the official Italian statistics surveys of deliveries and IA in the last 10 years from 2011 to 2020 in Sardinia. RESULTS: A total of 106,557 deliveries occurred and a progressive decrease in the birth rate has been observed. A total of 18,250 IA occurred and a progressive decline has been observed here as well. The ratio between IA and deliveries remained constant over the decade. Between 2011 and 2019 a variation of -4.32% was observed for IA while in the last year, during the COVID-19 pandemic the decrease of the procedures was equal to -12.30%. For the deliveries, a mean variation of the -4.8% was observed between the 2011 and the 2019 while in the last year, during the COVID-19 pandemic the decrease was about -9%. Considering the about 30% reduction of live births between 2011 and 2020, there is an almost proportional reduction in IA. CONCLUSIONS: Public policy responses to decreasing fertility, especially pronatalist ones, would be provided with evidence base about trends in delivery and IA and women's decision making.

From Prenatal to Preimplantation Genetic Diagnosis of ß-Thalassemia. Prevention Model in 8748 Cases: 40 Years of Single Center Experience.

The incidence of ß-thalassemia in Sardinia is high and ß-39 is the most common mutation. The prevention campaign started in 1977 and was performed in a single center (Microcitemico Hospital, Cagliari, Sardinia, Italy). It was based on educational programs, population screening by hematological and molecular identification of the carriers. Prenatal and pre-implantation diagnosis was offered to couples at risk. 8564 fetal diagnosis procedures using different invasive approaches and analysis techniques were performed in the last 40 years. Trans-abdominal chorionic villous sampling was preferred due to lower complication risks and early diagnosis. Chorionic villous DNA was analyzed by PCR technique. 2138 fetuses affected by ß-thalassemia were diagnosed. Women opted for termination of the pregnancy (TOP) in 98.2% of these cases. Pre-implantation genetic diagnosis (PGD) was proposed to couples at risk to avoid TOP. A total of 184 PGD were performed. Initially, the procedure was exclusively offered to infertile couples, according to the law in force. The success rate of pregnancies increased from 11.1% to 30.8% when, crucial law changes were enacted, and PGD was offered to fertile women as well. Forty years of ß-thalassemia prevention programs in Sardinia have demonstrated the important decrease of this severe genetic disorder.

Pregnancy outcome and long-term follow-up of fetuses with isolated increased NT: a retrospective cohort study.

OBJECTIVE: To assess the prevalence of associated findings, diagnosed either prior to or after birth, among fetuses with increased nuchal translucency (NT) and normal karyotype and to investigate the prevalence of children under therapy at school age, among cases confirmed to be isolated both prior to and after birth. METHODS: Retrospective cohort study of all singleton pregnancies were referred for the 1st trimester screening for Down syndrome between January 2004 and December 2006. Cases with NT >95th percentiles who undertook fetal karyotype were analyzed. We evaluated the prevalence of the following: (i) abnormal fetal karyotype, (ii) associated structural abnormalities, (iii) genetic syndromes, and (iv) children needing treatment (i.e. medications or psychopedagogical intervention) at school age. RESULTS: There were 19 106 women screened for Down syndrome. Among them, 846 (4.4%) had a NT >95th centile, of whom 541 (64.0%) undertook fetal karyotyping, 422 (78.0%) had normal karyotype, two (0.5%) opted for termination of pregnancy, and four (1.0%) ended in miscarriages. Among the 384 cases thought to be "normal" prior to birth, 14 (3.6%) were lost at follow-up and 10 (2.7%) had an associated abnormality diagnosed postnatally. Among the cases confirmed to be isolated, 10/270 (3.7%) were under treatment at the time of telephonic interview with parents. CONCLUSIONS: Parents should be informed that fetuses with increased NT and normal karyotype need detailed ultrasound scans during pregnancy and detailed pediatric evaluation at birth; if these are normal, the risk from adverse outcome at school age is the same as for general population.

How to perform transabdominal chorionic villus sampling: a practical guideline.

The spread of both first trimester screening for chromosomal abnormalities and the possibility to check for single gene disorders at DNA-analysis has increased the request for chorionic villus sampling (CVS) in the first trimester. In order to perform placental biopsy, two routes are possible: the transcervical (TC) and the transabdominal (TA). In early days, the trancervical technique was the most diffused, but since its introduction into clinical practice, the TA technique has become the approach of choice in detriment of the TC technique. In our institution, we have a 30-year experience in TA-CVS with more than 26 000 procedures performed. Considering the expertise and the volume of procedures undertaken at our unit, we suggest a practical guideline for novel operators in TA-CVS.

A Case of Enlarged Intracranial Translucency in a Fetus with Blake's Pouch Cyst.

The intracranial translucency (IT) is a recently introduced marker of open spina bifida (OSB). In this study, we describe a case of a fetus affected by Blake's pouch cyst which showed alterations of BS/BSOB ratio at the first trimester screening.

Absence of fetal nasal bone and aneuploidies at first-trimester nuchal translucency screening in unselected pregnancies.

OBJECTIVES: The absence of nasal bone (NB) has been noted in trisomy 21 fetuses at first-trimester ultrasound, in high-risk pregnancies. In this study, the nasal bone was evaluated in relation to fetal karyotype, in unselected pregnancies. METHODS: From September 2001 to September 2002, the fetal facial profile was examined at the 11 to 14 weeks' scan for screening by nuchal translucency (NT). Risks for trisomy 21 were calculated using the Fetal Medicine Foundation's software, and the presence or absence of NB was noted. Prenatal karyotype and pregnancy outcomes were recorded. RESULTS: NT screening was performed in 5532 fetuses from 5425 pregnancies (85 twins, 8 triplets, 2 quadruplets). The visualization of fetal profile was obtained in 5525 fetuses (99.8%), and in 5491 fetuses (99.4%) the NB was present and in 34 cases (0.6%) it was absent. Fetal karyotype and pregnancy outcome were available in 3503 pregnancies, and 40 chromosomal abnormalities were diagnosed (27 trisomies 21, 5 trisomies 18, 2 trisomies 13, 3 Turner syndromes, 1 partial trisomy 9 and 2 others). The NB was absent in 19 (70%) trisomies 21, 4 trisomies 18 (80%), 2 Turner syndromes (66%), in the partial trisomy 9, in 7 normal karyotype fetuses (0.2%), and in a case with spontaneous first-trimester abortion before prenatal diagnosis. A significant difference was found between NT thickness, expressed as a multiple of the median, in trisomy 21 fetuses with present and absent nasal bone. CONCLUSIONS: The absence of NB at 11 to 14 weeks is more frequent in fetuses with trisomy 21 and other aneuploidies than in normal karyotype fetuses.

Neural tube defects in the offspring of thalassemia carriers.

OBJECTIVES: The risk of neural tube defects (NTDs) is negatively correlated with maternal folate levels in early pregnancy. Thalassemia carriers often have reduced red cell folate contents. The aim of this study was to verify whether thalassemia carriers are at increased risk of having offspring with a NTD. METHODS: We retrospectively evaluated the prevalence of thalassemia carriers among 75 women who had prenatal diagnoses of NTDs made at our center. RESULTS: The prevalence of beta-thalassemia carriers among the affected pregnancies was significantly higher than in the general population (22.5 versus 14%, p < 0.05, chi(2) test). CONCLUSION: Although inconclusive, these data indicate that folate supplementation is mandatory among women with thalassemia who are planning a pregnancy.