Developmental dysplasia of the hip (DDH) is a spectrum of anatomical abnormalities of the hip joint in which the femoral head has an abnormal relationship with the acetabulum.Plain radiographs are of limited value for diagnosis in the new-born child because the femoral head and acetabulum are largely cartilaginous. Ultrasound scanning is the investigation of choice to evaluate DDH in infants younger than six months of age and is useful to diagnose more subtle forms of the disorder when a clinical exam is equivocal. It is also the only imaging modality that enables a three-dimensional real-time image of a neonate’s hip.

Cytomegalovirus (CMV) is the most frequent cause of congenital infection worldwide, with an estimated incidence in developed countries of 0.6–0.7% of all live births.The clinical spectrum of congenital CMV infection varies widely, from the complete absence of signs of infection (asymptomatic infection) to potentially life-threatening disseminated disease. At birth, 85–90% of infected infants are asymptomatic, and 10–15% present with clinical apparent infection (symptomatic disease).The presentation in this latter group is a continuum of disease expression whose more common findings are petechiae, jaundice, hepatomegaly, splenomegaly, microcephaly, and other neurologic signs.

Certain CHDs may present with a differential cyanosis, in which the preductal part of the body (upper part of the body) is pinkish but the post ductal part of the body (lower part of the body) is cyanotic, or vice versa (reverse differential cyanosis). The prerequisite for this unique situation is the presence of a right-to-left shunt through the PDA and severe coarctation of the aorta or aortic arch interruption or severe pulmonary hypertension. In patients with severe coarctation of the aorta or interruption of the aortic arch with normally related great arteries, the preductal part of the body is supplied by highly oxygenated pulmonary venous blood via the LA and LV, whereas the post ductal part is supplied by deoxygenated systemic venous blood via the RA, RV, main pulmonary artery (MPA) and the PDA. In the new-born with structurally normal heart, a differential cyanosis may be associated with persistent pulmonary hypertension of the new-born. In the cases of TGA with coarctation of the aorta or aortic arch interruption, the upper body is mostly supplied by systemic venous blood via the RA, RV, and ascending aorta, whereas the lower body is supplied by highly oxygenated pulmonary venous blood via the LA, LV, MPA, and then the PDA. For accurate detection of differential cyanosis, oxygen saturation should be measured in both preductal (right finger) and post ductal (feet) parts of the body.

The most probable diagnosis for this patient is Maple syrup urine disease (MSUD).Note:- Healthy new-borns have blood sugars between 3.3 and 5 mmol/L- Neonatal hypoglycaemia is glucose < 2.2 mmol/L if measured in the first 3 days of life.- Neonatal hypoglycaemia is glucose < 2.5 mmol/L after the first 3 days of life.Causes of persistent hypoglycaemia include:- Preterm- IUGR- SGA- Hyperinsulinism due to maternal diabetes- Beckwith-Wiedemann syndrome- Hypoxia at birth- Sepsis- Cardiopulmonary disease- Inborn errors of metabolism- Hepatic enzyme deficiencies- Glycogen storage disease

EPICure is a series of studies of survival and later health among babies and young people who were born at extremely low gestations – from 22 to 26 weeks.Boost II is a double-blind randomised controlled trial (RCT) comparing the effects of targeting arterial oxygen saturations between 85% and 89% versus 91% and 95% in preterm infants.OSCAR Xe is not the name of a study. Baby-OSCAR is an RCT to determine whether a confirmed large patent ductus arteriosus in very premature babies should be treated with ibuprofen within 72 hours of birth.SafeBoosC is a trial to examine if it is possible to stabilise the cerebral oxygenation of extremely preterm infants in the first 72 hours of life with the use of NIRS oximetry and a clinical treatment guideline. TOBY Xe is an RCT looking at the neuroprotective effects of hypothermia combined with inhaled xenon following perinatal asphyxia.

Bilious (green) gastric aspirate or emesis indicates that the intestines are obstructed below the ampulla of Vater.Gastrointestinal (GI) endoscopy is actually considered an essential diagnostic and therapeutic technique. Upper GI endoscopy in neonatal age allows for exploration of the oesophagus, stomach and duodenum| instead lower GI endoscopy easily reaches the sigmoid-colon junction.

Meconium aspiration syndrome (MAS) refers to breathing problems that a new-born baby may have when: – There are no other causes, and- The baby has passed meconium (stool) into the amniotic fluid during labour or deliveryThe most recent guidelines are as follows:- If the baby is vigorous (defined as having a normal respiratory effort and normal muscle tone), the baby may stay with the mother to receive the initial steps of new-born care. A bulb syringe can be used to gently clear secretions from the nose and mouth.- If the baby is not vigorous (defined as having a depressed respiratory effort or poor muscle tone), place the baby on a radiant warmer, clear the secretions with a bulb syringe, and proceed with the normal steps of new-born resuscitation (i.e., warming, repositioning the head, drying, and stimulating). If, after these initial steps are taken, the baby is still not breathing or the heart rate is below 100 beats per minute (bpm), administer positive pressure ventilation.Resuscitation should follow the same principles for infants with meconium-stained fluid as for those with clear fluidContinued care in the neonatal intensive care unit (NICU):Maintain an optimal thermal environment to minimize oxygen consumption.Minimal handling is essential because these infants are easily agitated. Agitation can increase pulmonary hypertension and right-to-left shunting, leading to additional hypoxia and acidosis. Sedation may be necessary to reduce agitation.An umbilical artery catheter should be inserted to monitor blood pH and blood gases without agitating the infant.Continue respiratory care includes oxygen therapy via hood or positive pressure, and it is crucial in maintaining adequate arterial oxygenation. Mechanical ventilation is required by approximately 30% of infants with MAS. Make concerted efforts to minimize the mean airway pressure and to use as short an inspiratory time as possible. Oxygen saturations should be maintained at 90-95%.Surfactant therapy is commonly used to replace displaced or inactivated surfactant and as a detergent to remove meconium. Although surfactant use does not appear to affect mortality rates, it may reduce the severity of disease, progression to extracorporeal membrane oxygenation (ECMO) utilization, and decrease the length of hospital stay.

Time- EventWeek 1: ImplantationWeek 2: Formation of bilaminar diskWeek 3: Formation of primitive streakFormation of notochordGastrulationWeek 4: Limb buds begin to formNeural tube closesHeart begins to beatWeek 10: Genitals are differentiated

Risk factors for neonatal death and stillbirth (weak predictive value):- African American race- Advanced maternal age- History of fetal demise- Maternal infertility- History of small for gestational age infant- Small for gestational age infant- Obesity- Paternal age- Poverty and poor quality of careSo in this case the risk factor is the parental unemployment

Ventilatory rates of 40-60 breaths/min should be provided initially, with proportionally fewer assisted breaths provided if the infant’s spontaneous respiratory efforts increase. Although this practice has not been extensively studied, initial inflation of the new-born’s lungs with either slow-rise or square-wave inflation to a pressure of 30-40 cm H2 O for approximately 5 seconds has been reported to result in more rapid formation of Functional Residual Capacity (FRC).At the moment of delivery and first breath, the neonatal lung is converting from a fetal non-aerated status to a neonatal status. The neonatal lung requires gas exchange, and this necessitates the development of FRC with the resorption of lung fluid and the resolution of most of the atelectasis. Therefore, initial slow ventilation with more prolonged inspiratory times may be useful to assist in this task, balanced against the need to avoid inappropriate inspiratory pressures.Flow-controlled, pressure-limited mechanical devices are acceptable for delivering PPV. These mechanical devices control flow and limit pressure and be more consistent than bags. Self-inflating and flow-inflating bags remain a standard of care. Laryngeal mask airways are effective for assisted ventilation when bag-mask ventilation and intubation are unsuccessful.

Turner syndrome is a genetic disease that affects females. It presents with wide-spread nipples, low hairline, lymphoedema, short 4th metacarpals, high-arched palate, cardiac problems, and horseshoe kidneys.

Treatment of depression is an important component of maternal and neonatal health. The use of SSRIs and antidepressants in the first trimester are unlikely to carry any congenital risks. However the use of the antidepressants closer to delivery may result in some respiratory, motor, gastrointestinal and central nervous system problems, with the most concerning of these being persistent pulmonary hypertension of the new-born. Other conditions such as cleft palate, jaundice, neural tube defects or floppy baby syndrome have not been shown to occur with SSRI use.

There are four types of IVH. These are called grades and are based on the degree of bleeding.Grades 1 and 2 involve a smaller amount of bleeding. Most of the time, there are no long-term problems as a result of the bleeding. Grade 1 is also referred to as germinal matrix haemorrhage (GMH).Grades 3 and 4 involve more severe bleeding. The blood presses on (grade 3) or directly involves (grade 4) brain tissue. Grade 4 is also called an intraparenchymal haemorrhage. Blood clots can form and block the flow of cerebrospinal fluid. This can lead to increased fluid in the brain (hydrocephalus).

Neonatal hyperbilirubinemia is a common clinical condition and can be categorized as conjugated and unconjugated hyperbilirubinemia. Conjugated hyperbilirubinemia results from obstructive or hepatocellular causes mainly. The causes of conjugated hyperbilirubinemia include inborn errors of metabolism like galactosemia and aminoaciduria, obstruction from choledochal cysts, and biliary atresia. Long term TPN also leads to conjugated hyperbilirubinemia. Spherocytosis is a hereditary condition belonging to the group of haemolytic anaemias, resulting from plasma membrane protein deficiency. This defect of the RBC plasma membrane decreases their life span, making them osmotically fragile and prone to haemolysis. This leads to an increase in the unconjugated bilirubin levels, with a risk of developing kernicterus.

In this case there is evidence of disseminated intravascular coagulation (DIC) caused by severe birth asphyxia. The baby was born weighing 4,9 kg which is a large size for a new-born and thus a difficult delivery with potential birth asphyxia.

The clinical picture suggests intracranial haemorrhage which is uncommon but prevalent in pre-term babies. The rest of the options suggest peripheral causes which do not affect the central function.

In the first trimester of pregnancy, amniotic fluid is produced from maternal plasma where there is a rapid bi-directional diffusion across the foetal skin. At 10 weeks the volume is about 25ml. By 16th weeks of gestation the foetal kidneys make urine that contributes to the increasing volume of amniotic fluid, along with nasal secretions. At 20 weeks, the level is 400ml and increases to 800ml at 28weeks, after which it reduces to 600ml at term.

Amniotic fluid is the protective liquid that surrounds the fetus in utero. It prevents the fetus from injury, protects the umbilical cord from compression, and provides necessary nutrients and a medium for growth and movement. Amniotic fluid originates from the maternal plasma initially, but by 16th week of gestation, fetal kidneys start making urine which contributes to further production of the amniotic fluid. Amniotic fluid contains a number of chemical substances including hormones, tumour markers, nutrients, electrolytes, and immunoglobulins. Main substances found in amniotic fluid include carbohydrates, proteins, lipids, lactoferrin, insulin-like growth factor, granulocyte colony-stimulating factor, erythropoietin, etc. Interleukin-1 is not a component of AF.

The origins of the neural tube and the nape of the neck where nuchal translucency measurements are taken are from embryonic ectoderm.The structural development of the head and neck occurs between the third and eighth weeks of gestation. The 5 pairs of branchial arches, corresponding to the primitive vertebrae gill bars, that form on either side of the pharyngeal foregut on day 22 are the embryologic basis of all the differentiated structures of the head and neck. Each arch consists of 3 layers: an outer covering of ectoderm, an inner covering of endoderm, and a middle core of mesenchyme. These arches are separated further into external, ectoderm-lined pharyngeal clefts and internal, endoderm-lined pharyngeal pouchesA population of ectodermal cells adjacent to the neural fold and not included in the overlying surface (somatic) ectoderm gives rise to the formation of the neural crest. These neuroectodermal crest cells are believed to migrate widely throughout the developing embryo in a relatively cell-free enriched extracellular matrix and differentiate into a wide array of cell and tissue types, influenced by the local environment. Most connective and skeletal tissues of the cranium and face ultimately come from the derivatives of neural crest cells.

Physiological jaundice is the condition in which there is a yellow discolouration of the eyes and the skin of the baby caused by the build up of bilirubin in the blood due to an immature liver. No other symptoms accompany physiological jaundice, thus it will not present with difficulty in feeding. All the other conditions listed can present with feeding problems.

Fetal alcohol syndrome (FAS) is a common yet under-recognized condition resulting from maternal consumption of alcohol during pregnancy. The diagnosis of fetal alcohol syndrome (FAS) is based on findings in the following 3 areas: (1) characteristic facial anomalies (see image below), (2) growth retardation (intrauterine growth restriction and failure to have catch-up growth), and (3) CNS involvement (cognitive impairment, learning disabilities, or behavioural abnormalities).Key characteristic craniofacial abnormalities include the following:- Smooth philtrum- Thin, smooth vermilion border of the upper lipShort palpebral fissures (< 10th percentile for age)Other craniofacial abnormalities are as follows:- Midface hypoplasia- Microphthalmia- Strabismus- PtosisCNS and neurobehavioral abnormalities include the following:- Microcephaly- Intellectual impairment (mild-to-moderate mental retardation)- Cognitive impairment- Developmental delay- Irritability in infancy- Hyperactivity in childhood or attention deficit hyperactivity disorder (ADHD)- Seizures- Delayed or deficient myelination- Agenesis or hypoplasia of the corpus callosumSkeletal abnormalities include the following:- Radioulnar synostosis- Flexion contractures- Camptodactyly- Aberrant palmar creases, especially hockey-stick palmar crease- Clinodactyly- Klippel-Feil anomaly- Hemivertebrae- Scoliosis- Dislocated jointsOther major congenital anomalies include the following:- Cleft palate- Heart defects- Renal anomalies- DiGeorge sequenceFunctional problems include the following:- Refractive problems (e.g., myopia, astigmatism)- Hearing lossGrowth deficiency includes the following:- Infant small for gestational age (< 10th percentile for weight or length)- Postnatal growth deficiency

Infants may require tracheal intubation if:- direct tracheal suctioning is required- effective bag-mask ventilation cannot be provided- chest compressions are performed- endotracheal (ET) administration of medications is desired- congenital diaphragmatic hernia is suspected, or – a prolonged need for assisted ventilation exists.

Pulmonary surfactant is a lipoprotein complex that is responsible for preventing the collapse of alveoli and increasing lung compliance.It is produced in the endoplasmic reticulum and secreted from the lamellar bodies of type 2 pneumocytes.Surfactant is essential for reducing surface tension at the air-water interface in the alveoli, thus preventing the collapse of alveoli during expiration. It is composed of dipalmitoyl phosphatidylcholine (DPPC), which is a phospholipid.In fetal development, production of surfactant begins around 26 weeks of gestation and reaches mature levels by 35 weeks.The deficiency of surfactant can result in neonatal respiratory distress syndrome or hyaline membrane disease, particularly in premature new-born babies.

The baby is not clearing CO2 normally despite normal oxygenation so we should increase the delta P. Higher delta P will increase tidal volume and hence CO2 removal.After initial resuscitation and stabilization, the following should be the ventilator settings used:Rate: 30-40/minutePeak inspiratory pressure (PIP) – determined by adequate chest wall movement.An infant weighing less than 1500 grams: 16-28 cm H2O.An infant weighing greater than 1500 grams: 20-30 cm H2O. Positive end expiratory pressure (PEEP): 4 cm of H2O OR 5-6 cm if FiO2 > 0.90.FiO2: 0.4 to 1.0, depending on the clinical situation.Inspiratory time: 0.3-0.5 sec.After 15 to 30 minutes, check arterial blood gases and pH.If the PaO2 or the O2 saturation is below accepted standards, the FiO2 can be raised to a maximum of 1.0. If the PaO2 or O2 saturation is still inadequate, the mean airway pressure can be raised by increasing either the PIP, PEEP, inspiratory time or the rate, leaving inspiratory time constant.If the PaCO2 is elevated, the rate or peak inspiratory pressure can be raised.

Cow’s milk differs in composition to human breast milk. The sodium content of cows milk is too high, which can easily overwhelm a baby’s developing kidneys and lead to hypernatremia and dehydration. In addition to its iron content being too low, cows milk can cause further increase iron deficiency anaemia by irritating the baby’s intestinal lumen and causing blood loss per rectum. After 12 months a baby’s gastrointestinal tract and organs are able to tolerate cows milk.

The clinical picture suggests a vitamin K deficiency haemorrhagic disease of the new-born and requires IV vitamin K and fresh frozen plasma. This usually presents with gastrointestinal bleeding, bleeding from the umbilical stump and bruising after 2–7 days.

Vitamin E deficiency in premature infants has been described as being associated with low haemoglobin levels in the 2nd month of life, haemolytic anaemia associated with thrombocytosis. Recently, low vitamin E concentrations were suspected as being associated with sudden death in infancy.

Umbilical vein catheterization utilizes the exposed umbilical stump in a neonate as a site for emergency central venous access up to 14 days old. Umbilical vein catheterization can provide a safe and effective route for intravenous delivery of medications and fluids during resuscitation.The indication for umbilical vein catheterization is when there is a need for IV access in a neonate for resuscitation, transfusions, or short-term venous access when otherwise unobtainable.

After birth, the infant takes its first breath and is exposed to a myriad of stimuli. The pulmonary vessels dilate, and pulmonary vascular resistance (PVR) decreases remarkably while the systemic vascular pressure rises above the PVR. This allows blood from the right ventricle to enter the lungs for oxygenation. In most cases, this increased oxygenation, along with other factors, causes the ductal wall to constrict and the ductus arteriosus to close functionally. As left-sided pressures rise higher than right-sided pressures, the foramen ovale functionally closes. With the clamping of the umbilical cord and the cessation of blood flow, pressures in the portal sinus decrease. This causes the muscle in the sinus wall near the ductus venosus to contract. The lumen of the duct becomes filled with connective tissue, and, in two months, the ductus venosus becomes a fibrous strand embedded in the wall of the liver, thus establishing adult circulation.

Identify babies as being more likely to develop significant hyperbilirubinemia if they have any of the following factors:- gestational age under 38 weeks- a previous sibling with neonatal jaundice requiring phototherapy- mother’s intention to breastfeed exclusively- visible jaundice in the first 24 hours of life.