ABSTRACT
In this retrospective study, the data of bone scintigraphy performed in 21 children suspected of reflex sympathetic dystrophy (RSD) were analyzed. All of them had persistent pain in an extremity or a clinical suspicion of RSD. All children with strong suspicion of RSD showed diffuse hypoactivity at the level of the involved area on bone scintigraphy. This hypoactivity was clearly related to a decreased vascular supply. The specificity of this scintigraphic pattern is questionable, however, since two children without suggestive clinical signs for RSD had the same scintigraphic pattern.
Subject(s)
Bone and Bones/diagnostic imaging , Pain/etiology , Reflex Sympathetic Dystrophy/diagnostic imaging , Arm/diagnostic imaging , Child , Female , Humans , Leg/diagnostic imaging , Male , Radionuclide Imaging , Reflex Sympathetic Dystrophy/complications , Retrospective StudiesABSTRACT
We report a case of the sonographic detection of oculoauriculovertebral dysplasia in a fetus at 15 weeks' gestation. An early diagnosis was suggested by observation of a maxillar cleft in association with unilateral microphthalmia. In the presence of microphthalmia the syndrome is likely to include mental retardation. When the diagnosis is made in the perinatal period, management generally involves cosmetic surgery. If, however, the condition is recognized in the early stages of gestation, termination of pregnancy may be an option.
Subject(s)
Goldenhar Syndrome/diagnostic imaging , Ultrasonography, Prenatal , Adult , Female , Gestational Age , Goldenhar Syndrome/pathology , Humans , Pregnancy , Pregnancy Outcome , Pregnancy Trimester, Second , RadiographyABSTRACT
In order to evaluate the safety of the intracytoplasmic sperm injection (ICSI) procedure, a prospective follow-up study of 423 children born after ICSI was carried out. The aim of this study was to compile data on karyotypes, congenital malformations, growth parameters and developmental milestones. Before starting the infertility treatment, couples were asked to participate in a follow-up study including genetic counselling and prenatal diagnosis. The follow-up study of the child was based on a visit to the paediatrician-geneticist at birth or at 2 months of age, at 1 year and at 2 years of age when a physical examination for major and minor malformations and a psychomotoric evaluation were done. Between April 1991 and September 1994, 320 pregnancies obtained after ICSI led to the birth of 423 children (222 singletons, 186 twins and 15 triplets). Prenatal diagnosis determined a total of 293 karyotypes, one of which was abnormal (0.3%), and four were benign familial structural aberrations, all inherited from the paternal side. A total of 14 (3.3%) major malformations were observed, defined as those causing functional impairment or requiring surgical correlation. Neurological or developmental problems at the age of 2 months were found in 14 children, four of whom were multiples. Compared to most registers of children born after assisted reproduction and to registers of malformations in the general population, the figure of 3.3% major malformations is within the expected range. Before drawing any firm conclusion, further careful evaluations of the available data are necessary.
Subject(s)
Fertilization in Vitro/adverse effects , Fertilization in Vitro/methods , Spermatozoa , Adult , Child Development , Child, Preschool , Chromosome Aberrations , Congenital Abnormalities/diagnosis , Congenital Abnormalities/etiology , Congenital Abnormalities/genetics , Cytoplasm , Diseases in Twins , Female , Follow-Up Studies , Genetic Counseling , Humans , Infant , Infant, Newborn , Karyotyping , Male , Microinjections , Middle Aged , Pregnancy , Prenatal Diagnosis , Prospective Studies , Safety , TripletsABSTRACT
The safety of intracytoplasmic sperm injection (ICSI) as a novel procedure of assisted fertilization may be assessed by the health of the children born. In a prospective follow-up study of children born after assisted procreation, 130 children born consecutively after ICSI were compared with 130 control children born after in-vitro fertilization (IVF). In both groups, mothers were matched for age and had the same standard treatment protocol. There were 74 singleton, 50 twin and six triplet children in each group. Prenatal karyotyping and ultrasound screening, physical examination at birth and developmental milestones, with a follow-up at 2 months and 1 year, were recorded. Prenatal karyotypes were obtained in 100 of the 130 children in the ICSI group compared with 22 of the 130 children in the matched IVF group. All karyotypes were normal except for one prenatally detected mosaicism, which was not confirmed at birth. Four major malformations were detected in the ICSI group (holoprosecencephaly, femur fibula ulna syndrome and palatoschisis in two children), compared with six in the matched IVF group (coarctation of the aorta, palatoschisis, hypospadias, unilateral cryptorchidism, soft tissue syndactily and 11-beta-hydroxylase deficiency). In the ICSI and IVF groups, mean +/- SD birth weights were 2.94 +/- 0.67 and 2.80 +/- 0.73 kg, lengths were 48.46 +/- 3.56) and 47.47 +/- 5.78 cm, and head circumferences were 33.79 +/- 2.20 and 31.19 +/- 8.88 cm respectively. Among the ICSI singletons, the mean +/- SD birth weight was 3.28 +/- 0.58 kg and among the twins it was 2.60 +/- 0.43 kg; for the IVF singletons and matched twins the mean +/- SD birth weights were 3.19 +/- 0.56 and 2.36 +/- 0.61 kg respectively. In conclusion, there was no difference in the paediatric follow-up of 130 children born after ICSI and 130 children born after conventional IVF in age-matched control patients.
