Discussion
This study included 265 pregnant women diagnosed with fetal abnormalities. Of these, 1.9% were in the first trimester, 69.1% in the second trimester, and 29% in the third trimester. The second trimester is the optimal period for detecting fetal abnormalities ( Edwards & Hui, 2018 ; Rydberg & Tunón, 2017 ). With advancements in prenatal screening technology, it is now possible to detect fetal chromosomal abnormalities by measuring the thickness of the translucency in the fetal neck and analyzing serum markers during early pregnancy. In addition, prenatal ultrasound can also detect abnormalities in other areas, including the neck (92%), limbs (34%), face (34%), genitourinary organs (34%), and heart (53%). Therefore, an increasing number of fetal abnormalities can be detected in the first trimester. In our study, fetal abnormalities were found in only 1.9% of the pregnant women during the first trimester of pregnancy. This low diagnostic rate may be attributed to the poor compliance of pregnant women during the first trimester of pregnancy with regard to screening as well as variations in screening technology across different hospitals ( Bardi et al., 2022 ; Karim et al., 2017 ). It is suggested that the publicity and health education on birth defects prevention and control be further strengthened in primary hospitals. This can enhance the efficient utilization of prenatal diagnosis techniques and improve the level of diagnosis, thereby reducing diagnostic errors such as missed diagnosis and misdiagnosis ( Sharp & Alfirevic, 2014 ).

The fetal abnormalities detected in this study were most prevalent in the central nervous system, cardiovascular system, and respiratory system. Among them, The central nervous system had the largest proportion of abnormalities, accounting for 18.2% of all developmental abnormalities. It is also the most common abnormality observed in pregnant women undergoing labor induction ( Akinmoladun, 2021 ). The central nervous system and cardiovascular system abnormalities are among the most common congenital abnormalities in China, accounting for one-third of all cases ( Dai et al., 2011 ), From 2009 to 2011, the Chinese government invested 320 million yuan in a program aimed at providing free folic acid supplementation to pregnant women in rural areas, with the goal of preventing neural tube defects, and the effect was remarkable, as the nationwide incidence of neural tube defects decreased by 62.3% ( Liu et al., 2015 ). However, neurological abnormalities remained the most common fetal abnormalities in our study, which may be attributed to the advancements in prenatal diagnosis technology in recent years, enabling the detection of an increasing number of neurological abnormalities at an early stage. Additionally, the increase in advanced maternal age and exposure to harmful substances in the living environment of women of childbearing age may contribute to this trend. Abnormalities in the central nervous system may also result in intellectual and physical abnormalities in newborns after birth, with a mortality rate of 36.45%, furthermore, 62.79% of the surviving children were found to have neurodevelopmental disorders ( Hart et al., 2022 ; Struksnæs, Blaas & Vogt, 2019 ; Tan, Sethi & Sulaiman, 2022 ). Therefore, most families often choose to induce labor, considering the poor prognosis of the fetus and the impact on the quality of family life in the later stage.

We found that the diagnosis of multiple abnormalities was an important factor affecting termination of pregnancy (TOP), which was consistent with the findings of Rauch et al. (2005) . Multisite abnormalities are frequently linked to chromosomal abnormalities, which increase the likelihood of uncertain fetal prognosis. As a result, pregnant women and their families may be more likely to consider abortions.

In most cases, doctors’ recommendations reflect the severity of the disease, which is another important factor that may affect pregnancy outcomes in women with fetal abnormalities, consistent with previous findings ( Hjort-Pedersen et al., 2022 ; Horn-Oudshoorn et al., 2023 ). In our study, one fetus was diagnosed with spina bifida and the other with trisomy 18. Both conditions are associated with a high stillbirth rate. Even in cases of live birth, these conditions had a significant impact on the baby’s later motor and intellectual development. Therefore, considering the poor prognosis, doctors recommend termination of pregnancy (TOP). The other 34 cases of fetal abnormalities diagnosed in pregnant women were non-fatal, but they required complex medical, surgical, or plastic treatment at a high cost and had potentially serious consequences. Doctors informed both parents about perinatal prognosis, enabling them to decide whether to proceed with the pregnancy or terminate it.

Previous studies ( Bardi et al., 2022 ; Crowe et al., 2018 ) have shown that pregnant women diagnosed with fetal abnormalities in the first trimester were more likely to terminate their pregnancies. This was mainly because the fetus was not fully developed in the first trimester and chromosomal abnormalities and severe structural malformations could be screened at this stage. Even if pregnant women chose to terminate their pregnancies, their physical and psychological damage was lower than that in the second and third trimesters. However, no statistical difference was found in the diagnosis of gestational age in our study, which may be attributed to the small sample size included in the first trimester. Brooks et al. (2019) investigated the preference of 101 pregnant women for prenatal testing and termination of pregnancy and found that more than 60% of pregnant women reported that the reason for termination of pregnancy was mainly related to the severity of the disease (such as early infant death, severe intellectual disability, hemoglobinopathy, and amelia) and had no relationship with age, delivery time, abortion history, or previous history of fetal abnormalities. This result is consistent with our findings. Schechtman et al. (2002) found that the educational level of pregnant women is inversely proportional to the likelihood of terminating pregnancy. Pregnant women with a high school education were less likely to choose to terminate a pregnancy when faced with fetal abnormalities than those without a high school education. This trend may be attributed to education level. High acceptance of disease knowledge in communication with doctors is expected. However, this phenomenon was not observed in this study. This discrepancy may be attributed to the fact that 74.7% of the 265 pregnant women in our study had educational levels above high school. Consequently, the overall level of awareness was higher, and more emphasis was placed on the severity of fetal abnormalities.

In our study, 86.4% of pregnant women were advised to continue with the pregnancy, but the actual termination rate was only 15.8%, which was significantly lower than the rates reported in previous studies ( Boyd et al., 2008 ). This could be attributed to advancements in fetal and pediatric medicine, which have improved the prognosis of the disease. Additionally, the hospital implemented a multidisciplinary approach for diagnosis and treatment. In the past, prenatal consultation for fetal abnormalities was primarily conducted by obstetricians, and the assessment of prognosis and perinatal management was not as thorough. Therefore, TOP has become the primary treatment recommendation. At present, our hospital has established a multidisciplinary diagnosis and treatment center called the “Fetal Life Cycle Clinic.” The clinic consists of various departments and practices, including prenatal diagnosis, obstetrics, neonatology, neonatal surgery, pediatric surgery, neurological rehabilitation, pediatric genetics and metabolism, oral medicine centers, otolaryngology departments, ophthalmology, reproductive centers, ultrasound diagnosis departments, and radiology departments (nuclear magnetic resonance). In this study, we found the significance of multidisciplinary diagnosis and treatment, a practice that can be replicated by other hospitals in the future. Integrating resources, leveraging the advantages of specialties, providing patients with comprehensive diagnosis and treatment plans, and managing the entire perinatal period can improve pregnancy outcomes by avoiding unnecessary labor induction ( Kim et al., 2019 ; Menzel et al., 2018 ).

In conclusion, The outcome of pregnant women with fetal abnormalities is mainly related to the number of fetal abnormalities and the doctor’s treatment recommendations. To reduce the occurrence of birth defects, it is essential to enhance primary prevention efforts, raise awareness about the importance of maternal healthcare during pregnancy, and improve the quality of prenatal diagnosis in medical facilities. For pregnant women diagnosed with fetal abnormalities, it is important to provide prenatal counseling, as well as social and professional support. This will help them and their families to make informed decisions regarding their pregnancies. Multidisciplinary diagnosis and treatment approaches can lead to timely and effective comprehensive diagnosis and treatment, improve fetal prognosis, and promote the development of disciplines.

Our study has some limitations. First, this was a single-center, retrospective study conducted at a hospital in China. Selection bias cannot be completely excluded, the sample size was small, and the conclusions could only be considered as hints and suggestions. Therefore, in future research, it is necessary to conduct prospective, multicenter, and large-sample studies. Second, most pregnant women did not undergo invasive prenatal diagnosis owing to economic constraints, which could potentially lessen the influence of chromosomal or genetic abnormalities on pregnancy outcomes. Third, patient privacy should be considered, important variables, such as family income, personal income level of pregnant women, religious beliefs, and psychological quality, were not captured by the information system. This may result in overestimation of the influence of other factors. Therefore, in future studies, health information regarding pregnancy and childbirth should be improved.