Formally recognized by O’Sullivan and Mahan in 1964, gestational diabetes mellitus (GDM) is defined as any degree of hyperglycaemia recognized for the first time in the pregnancy, including type 2 diabetes mellitus diagnosed during pregnancy, as well as true GDM which develops in pregnancy. GDM is currently the most prevalent medical complication during gestation, affecting approximately 15% of pregnancies worldwide. Important risk factors for GDM include being obese, advanced maternal age and having a family history of diabetes mellitus. Expectant mothers with GDM face the risk of developing gestational hypertension, pre-eclampsia, and necessitating cesarean section for pregnancy termination. Moreover, GDM amplifies the likelihood of complications such as cardiovascular disease, obesity, and abnormal carbohydrate metabolism, consequently increasing the chances of type 2 diabetes (T2D) development in both the mother and the child. Pregnancy itself places stress on the body’s insulin production and utilization, and some women are unable to produce enough insulin to overcome the insulin resistance caused by pregnancy hormones. While gestational diabetes usually resolves after pregnancy, the experience of insulin resistance during pregnancy can unmask an underlying predisposition to insulin resistance, which is a key factor in the development of T2D.

Neurofibromatosis is a genetic disorder arising de novo or with an autosomal dominant transmission that typically presents either at birth or in early childhood, manifesting through distinctive clinical features such as multiple café-au-lait spots, benign tumors in the skin, bone enlargement, and deformities. This literature review aims to resume the spectrum of maternal and fetal complications encountered in pregnant women with neurofibromatosis type 1 (NF1). Thorough research was conducted on databases such as Web of Science, PubMed, Science Direct, Google Scholar, and Wiley Online Library. This review includes 48 case reports, original studies, and reviews on NF1 in pregnancy. The research on the interlink between NF1 and fertility and its influence on human-assisted reproduction techniques is limited. Preimplantation testing (by in vitro fertilization) and prenatal diagnosis (by chorionic villus sampling or amniocentesis) are available to detect affected fetuses. However, genotype–phenotype correlation is difficult to predict. Preconceptional planning and targeted investigations are crucial in understanding the extent of maternal disease. Although in some cases lesions can evolve rapidly during pregnancy, most pregnancies and births in NF1 go well with careful planning. There is a higher incidence of pheochromocytomas and pre-eclampsia, vascular rupture, and cardio-respiratory issues. Anesthesia at birth is a challenge in most cases, and before offering spinal anesthesia, imaging tests should be performed to characterize spinal lesions. General anesthesia may also be challenging when the disease affects the face, neck, upper spine, or airways. Birth-related difficulties may arise because of large neurofibromas located at the level of skin incision or birth canal; uterine atony may be expected if there are uterine lesions. Some complications can develop in postpartum, and affected women should be carefully followed even after pregnancy. Fetal risks include preterm birth (spontaneous or iatrogenic), growth restriction and developmental issues, birth complications, cardiovascular risk, and fetal/neonatal demise. Pregnancies in women with NF1 should be regarded as high-risk and followed in a multidisciplinary fashion. Careful assessment of lesions is of utmost importance before and during pregnancy for anticipating potential maternal risks and before birth to plan anesthesia and delivery.

This paper presents a rare case of fetal hydrops detected at just 23 weeks of gestation in a 22-year-old woman’s first pregnancy. The fetal ultrasound revealed severe skeletal anomalies, craniofacial deformities, and thoracic abnormalities, suggesting a complex and severe skeletal dysplasia, potentially type IA Achondrogenesis—a lethal autosomal recessive condition marked by ossification delay. This case highlights the significance of advanced genetic testing, such as next-generation sequencing (NGS) and whole-genome sequencing (WGS), in diagnosing and understanding skeletal dysplasias. Skeletal dysplasias represent a group of genetic disorders that affect osteogenesis. The prevalence of this condition is 1 in 4000 births. Sadly, 25% of affected infants are stillborn, and around 30% do not survive the neonatal period. There is a wide range of rare skeletal dysplasias, each with its own specific recurrence risk, dysmorphic expression, and implications for neonatal survival and quality of life. When skeletal dysplasia is incidentally discovered during routine ultrasound screening in a pregnancy not known to be at risk of a specific syndrome, a systematic examination of the limbs, head, thorax, and spine is necessary to reach the correct diagnosis. Prenatal diagnosis of skeletal dysplasia is crucial for providing accurate counselling to future parents and facilitating the proper management of affected pregnancies. An accurate diagnosis can be a real challenge due to the wide spectrum of clinical presentations of skeletal dysplasia but advances in imaging technologies and molecular genetics have improved accuracy. Additionally, some of these skeletal dysplasias may present clinical overlap, making it especially difficult to distinguish. After the 11th revision of genetic skeletal disorder nosology, there are 771 entities associated with 552 gene mutations. The most common types of skeletal dysplasia are thanatophoric dysplasia, osteogenesis imperfect, achondroplasia, achondrogenesis, and asphyxiating thoracic dystrophy.

Fetal biliary lithiasis is a benign condition characterized by the presence of gallstones in the gallbladder of a developing fetus. It is typically detected incidentally during a routine obstetric echography. The incidence of this condition varies from 0.03% to 2.3%. In most cases, fetal cholelithiasis resolves spontaneously and has an excellent prognosis. However, there are certain risk factors that may contribute to its development. Maternal factors that increase the risk of fetal cholelithiasis include placental abruption, elevated estrogen levels, narcotic use, diabetes, enteral nutrition, and specific medications, such as ceftriaxone, furosemide, and prostaglandin E2. Fetal factors that can contribute to the condition include Rhesus or ABO blood group incompatibility, congenital anomalies affecting the cardiovascular, gastrointestinal, or urinary systems, twin pregnancies with the fetal demise of one twin, genetic anomalies such as trisomy 21, chromosomal aberrations, cystic fibrosis, growth restriction, oligohydramnios, hepatitis, or idiopathic causes. Usually, the gallstones spontaneously resolve before or after birth without requiring specific treatment. However, in rare instances, complications can arise, such as the formation of biliary sludge, inflammation of the gallbladder (cholecystitis), or obstruction of the bile ducts. If complications occur or if the gallstones persist after birth, further evaluation and management may be necessary. Treatment options can include medication, minimally invasive procedures, or, in severe cases, surgical removal of the gallbladder.